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

T1696P has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational 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

Observed carriers by publication or cohort.
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.

Previously observed variants near T1696P.
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