SCN5A Variant T1723N
Summary of observed carriers, functional annotations, and structural context for SCN5A T1723N. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
31%
2/12 effective observations
Estimated BrS1 penetrance
13%
1/12 effective observations
Total carriers
2
0 BrS1 · 1 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 1 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -1.58 | 0.776 | -0.09 | 0.549 | 19 | 29 |
PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
|---|---|---|---|---|---|---|---|
| 19716085 | 2009 | 1 | 1 | 0 | 0 | ||
| Literature, cohort, and gnomAD | – | 2 | 1 | 1 | 0 | – | |
| Variant features alone | – | 15 | 13 | 1 | 1 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Functional data
Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.
| PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
|---|---|---|---|---|---|---|
| 19716085 | 2009 |
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 1403 | 11 | |
| 1746 | 12 | A1746T, A1746V, |
| 1724 | 4 | |
| 1406 | 12 | G1406R, G1406E, G1406R, |
| 1715 | 14 | |
| 1361 | 14 | |
| 1726 | 9 | |
| 739 | 13 | |
| 1745 | 9 | |
| 1397 | 8 | c.4189delT, c.4190delA, |
| 1743 | 11 | G1743R, G1743E, G1743R, |
| 1723 | 0 | T1723N, |
| 1725 | 5 | P1725L, |
| 1398 | 10 | V1398M, |
| 1411 | 14 | |
| 1407 | 10 | |
| 1410 | 12 | |
| 1747 | 14 | V1747M, |
| 1714 | 14 | D1714G, |
| 1396 | 12 | |
| 1404 | 11 | |
| 1744 | 11 | S1744I, |
| 1721 | 7 | |
| 1742 | 13 | |
| 1727 | 11 | |
| 1719 | 11 | |
| 1408 | 13 | G1408R, G1408R, |
| 1731 | 14 | |
| 1728 | 9 | C1728Y, C1728R, C1728W, |
| 1360 | 13 | F1360C, |
| 1401 | 9 | |
| 1399 | 6 | |
| 1748 | 13 | G1748D, p.G1748del, |
| 738 | 14 | |
| 1683 | 14 | |
| 740 | 15 | p.N740del, |
| 1400 | 10 | V1400I, |
| 1718 | 9 | S1718R, S1718R, S1718R, |
| 1717 | 12 | L1717P, |
| 1682 | 15 | |
| 1722 | 5 | N1722D, |
| 1686 | 15 | |
| 1749 | 12 | I1749N, |
| 1729 | 13 | D1729N, |
| 1720 | 11 | c.5157delC |
| 1685 | 13 | |
| 1402 | 14 |