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 |