SCN5A Variant F1567Y

Summary of observed carriers, functional annotations, and structural context for SCN5A F1567Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

20%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

F1567Y 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 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 (%)
NA NA NA 0.958 20 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 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 F1567Y.
Neighbour residue Distance (Å) Observed variants
1569 7 A1569P,
1544 8 T1544P,
1627 13
1567 0 F1567L, F1567L, F1567L,
1536 10
1538 8
1566 4
1568 6
1543 10 V1543L, V1543A, V1543L,
1602 11
1558 15
1534 10
1542 11
1575 14 C1575S, C1575S,
1562 10
1571 6 F1571C,
1572 10
1564 6
1570 6 p.1570_F1571insI, I1570V, p.I1570dup,
1599 12
1546 14 M1546T,
1545 11
1630 14 I1630V, I1630R,
1532 15 V1532F, V1532I,
1626 9 R1626P, R1626H, R1626C, R1626L,
1603 14 I1603F,
1625 15
1606 13 T1606I,
1560 10 L1560F, L1560F,
1559 11 I1559V,
1632 14 R1632C, R1632L, R1632H,
1539 10 C1539Y, C1539F,
1530 14
1573 12
1535 12
1537 5
1565 7 L1565M,
1548 14 G1548K, E1548K,
1595 13
1629 11 R1629G, R1629X, R1629Q,
1605 15 c.4813+3_4813+6dupGGGT, c.4813+5insTGGG, G1605D, c.4813+2_4813+5dupTGGG, G1605C,
1547 14 V1547L, V1547L,
1574 11 c.4719C>T, E1574K,
1533 12 T1533I,
1563 6
1541 6
1540 7
1622 13
1598 12 V1598A,
1561 10
1623 14 c.4867delC, R1623Q, R1623X, R1623L,