SCN5A Variant I1570V

Summary of observed carriers, functional annotations, and structural context for SCN5A I1570V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/11 effective observations

Estimated BrS1 penetrance

32%

3/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

I1570V is present in 1 alleles in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 3 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 (%)
-0.48 0.025 3.79 0.61 59 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 – 1 1 0 0 –
Variant features alone – 15 12 0 3 – –

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 I1570V.
Neighbour residue Distance (Å) Observed variants
1569 4 A1569P,
1525 14 V1525M, V1525A,
1544 14 T1544P,
1524 13 I1524T,
1567 6 F1567L, F1567L, F1567L,
1536 11
1538 10
1531 13
1566 6
1568 6
1602 12
1534 7
1575 10 C1575S, C1575S
1562 14
1600 15
1571 5 F1571C,
1521 15 I1521T, I1521K,
1527 15 K1527R,
1572 6
1564 11
1570 0 p.I1570dup, p.1570_F1571insI, I1570V,
1529 13
1599 10
1532 13 V1532I, V1532F,
1626 13 R1626P, R1626C, R1626L, R1626H,
1603 14 I1603F,
1606 14 T1606I,
1576 10
1596 15 F1596I, F1596C,
1632 14 R1632C, R1632H, R1632L,
1539 13 C1539Y, C1539F,
1530 10
1573 6
1535 12
1537 7
1565 10 L1565M,
1595 12
1629 12 R1629G, R1629X, R1629Q,
1574 7 c.4719C>T, E1574K,
1533 10 T1533I,
1563 11
1541 11
1578 12 c.4732_4733dupAA,
1540 11
1598 12 V1598A,
1561 14
1577 11