SCN5A Variant T1696P
Summary of observed carriers, functional annotations, and structural context for SCN5A T1696P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/10 effective observations
Estimated BrS1 penetrance
27%
2/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.987 | 32 | 0 |
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 |
---|---|---|---|---|---|---|---|
Literature, cohort, and gnomAD | – | 0 | 0 | 0 | 0 | – | |
Variant features alone | – | 15 | 13 | 0 | 2 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
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 |
---|---|---|
333 | 13 | c.998+1G>A, c.998+5G>A, |
1702 | 9 | |
387 | 10 | |
330 | 13 | S330F, |
388 | 15 | I388S, |
1698 | 5 | A1698T, |
1220 | 13 | G1220E, |
1673 | 10 | |
1675 | 11 | |
332 | 13 | A332T, |
1681 | 11 | c.5040_5042delTTAinsC, Y1681F, |
1694 | 8 | |
1704 | 12 | L1704H, |
1226 | 7 | |
1695 | 5 | Q1695X, |
1688 | 13 | |
1669 | 12 | |
1671 | 15 | |
1221 | 13 | A1221V, |
1676 | 7 | M1676T, M1676I, |
1668 | 13 | M1668T, |
386 | 14 | G386R, G386E, |
1692 | 10 | |
1219 | 15 | S1219N, |
1672 | 9 | S1672Y, |
1693 | 6 | |
1699 | 5 | |
331 | 9 | |
1665 | 15 | |
1680 | 10 | A1680T, A1680P, |
1703 | 10 | |
1235 | 14 | |
1231 | 12 | E1231K, |
1701 | 9 | M1701I, |
1228 | 7 | Y1228F, Y1228C, Y1228H, |
1690 | 11 | c.5068_5070delGA, D1690N, |
1678 | 14 | N1678S, |
1223 | 8 | c.3667delG, |
1697 | 5 | |
1227 | 7 | |
1222 | 12 | p.L1222LfsX7, L1222R, |
1230 | 14 | E1230K, |
1674 | 14 | F1674V, |
1229 | 12 | |
390 | 14 | |
382 | 14 | |
1696 | 0 | |
1705 | 14 | |
1689 | 13 | D1689N, |
1700 | 6 | |
1677 | 11 | |
1682 | 13 | |
1224 | 9 | |
1670 | 15 | |
1225 | 10 | E1225K, G1225K, |
1691 | 10 | |
1679 | 11 |