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SCN5A Variant F1587V

Summary of observed carriers, functional annotations, and structural context for SCN5A F1587V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/11 effective observations

Estimated BrS1 penetrance

11%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

F1587V is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 1 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 (%)
-6.27 1 -2.85 0.954 5 2

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 14 0 1

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 F1587V.
Neighbour residue Distance (Å) Observed variants
1525 14 V1525A, V1525M,
1586 4
1587 0 F1587V,
1575 11 C1575S,
1510 13
1600 13
1599 13
1583 9 R1583C, R1583H,
1580 11
1585 8 Y1585C,
1576 13
1596 7 F1596I, F1596C,
1589 8
1584 7
1632 15 R1632C, R1632H, R1632L,
1597 11 V1597M,
1594 10 F1594S,
1588 6 T1588I,
1581 11 A1581S,
1591 12 W1591X,
1593 6 I1593M,
1595 10
1629 15 R1629Q, R1629G, R1629X
1574 13 E1574K, c.4719C>T,
1592 7
1578 10 c.4732_4733dupAA,
1590 9
1582 8 L1582P,
1579 8 L1579fsX53,
1598 14 V1598A,
1577 14