SCN5A Variant V1547L
Summary of observed carriers, functional annotations, and structural context for SCN5A V1547L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
16%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -2.67 | 0.286 | 1.47 | 0.781 | 22 | 3 |
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
| 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.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 266 | 10 | L266H, |
| 1544 | 6 | T1544P, |
| 270 | 10 | Q270K, |
| 360 | 15 | |
| 1627 | 14 | |
| 1567 | 14 | F1567L, F1567L, F1567L, |
| 1552 | 9 | Q1552R, Q1552L, |
| 355 | 15 | F355I, F355C, |
| 1549 | 7 | |
| 1556 | 8 | |
| 356 | 11 | D356N, |
| 1543 | 7 | V1543L, V1543L, V1543A, |
| 1558 | 13 | |
| 1542 | 10 | |
| 1557 | 11 | I1557V, |
| 361 | 13 | |
| 1562 | 14 | |
| 1564 | 12 | |
| 1546 | 6 | M1546T, |
| 1545 | 7 | |
| 1626 | 14 | R1626H, R1626L, R1626P, R1626C, |
| 267 | 14 | |
| 1550 | 12 | |
| 1560 | 7 | L1560F, L1560F, |
| 262 | 13 | S262G, |
| 357 | 9 | |
| 362 | 15 | |
| 273 | 11 | |
| 1559 | 10 | I1559V, |
| 1553 | 11 | S1553R, S1553R, S1553R, |
| 1539 | 14 | C1539F, C1539Y, |
| 269 | 9 | |
| 1548 | 5 | G1548K, E1548K, |
| 1555 | 13 | E1555K, |
| 265 | 12 | A265V, |
| 358 | 9 | |
| 1551 | 12 | D1551Y, D1551N, |
| 263 | 15 | V263I, |
| 359 | 12 | p.A359PfsX12, A359T, |
| 1547 | 0 | V1547L, V1547L, |
| 1563 | 11 | |
| 1541 | 11 | |
| 1554 | 13 | |
| 1540 | 11 | |
| 268 | 13 | G268S, |
| 1561 | 12 | |
| 1623 | 13 | c.4867delC, R1623Q, R1623L, R1623X, |