SCN5A Variant Q1483H

Summary of observed carriers, functional annotations, and structural context for SCN5A Q1483H. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

46%

2/11 effective observations

Estimated BrS1 penetrance

9%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

Q1483H is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Hotspot region for LQT3.

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

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
-4.52 0.046 -1.69 0.739 4 75

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 – 1 1 0 0 –
Variant features alone – 15 13 2 0 – –

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 Q1483H.
Neighbour residue Distance (Å) Observed variants
1480 11 c.4437+5G>A, c.4438-1C>T,
1486 6 F1486L, F1486L, p.F1486del, F1486L,
1485 5
1487 8 M1487L, M1487L, M1487K,
1492 7
1875 14 p.M1875dup, M1875T, M1875K,
1477 12 K1477N, K1477N,
1491 9 Q1491H, Q1491H,
1493 13 K1493R, K1493X, p.K1493del,
1478 7 K1478E,
1495 8 Y1495S,
1479 10
1496 11
1474 12
1481 7 G1481V, G1481R, G1481E, G1481R,
1499 13
1488 10 T1488R,
1498 14 M1498T, M1498V, M1498R,
1876 15
1482 4
1476 13 Q1476R, Q1476X,
1484 5
1497 14
1490 13
1475 11 p.Q1475NfsX6, Q1475L,
1483 0 Q1483H, Q1483H,
1494 12
1489 10 E1489D, E1489D,