SCN5A Variant Q1613H
Summary of observed carriers, functional annotations, and structural context for SCN5A Q1613H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/11 effective observations
Estimated BrS1 penetrance
29%
3/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -2.44 | 0.864 | -0.77 | 0.737 | 42 | 6 |
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 | 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.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 1606 | 13 | T1606I |
| 1610 | 5 | D1610G, |
| 1615 | 7 | Y1615X, |
| 1612 | 5 | |
| 1605 | 10 | c.4813+5insTGGG, G1605C, G1605D, c.4813+3_4813+6dupGGGT, c.4813+2_4813+5dupTGGG, |
| 1611 | 7 | I1611V, |
| 1616 | 6 | |
| 1607 | 14 | |
| 1620 | 12 | T1620K, T1620M, |
| 1617 | 8 | p.F1617del, |
| 1608 | 11 | |
| 1604 | 10 | c.4810+3_4810+6dupGGGT, V1604M, |
| 1602 | 14 | |
| 1622 | 12 | |
| 1618 | 7 | |
| 1614 | 5 | |
| 1601 | 13 | L1601H, |
| 1621 | 13 | |
| 1609 | 8 | S1609L, S1609W, |
| 1603 | 15 | I1603F, |
| 1623 | 14 | R1623X, R1623Q, c.4867delC, R1623L, |
| 1619 | 9 | c.4856delC, P1619Q, P1619L, |
| 1613 | 0 | Q1613H, Q1613H, Q1613L, |