SCN5A Variant Q1552R

Summary of observed carriers, functional annotations, and structural context for SCN5A Q1552R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0%

0/11 effective observations

Estimated BrS1 penetrance

13%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

Q1552R is present in 1 alleles 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 (%)
-3.57 0.944 -2.65 0.917 11 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 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 Q1552R.
Neighbour residue Distance (Å) Observed variants
269 13
1552 0 Q1552R, Q1552L,
1546 14 M1546T,
1549 5
1556 6
1545 14
356 10 D356N,
1558 12
1548 8 E1548K, G1548K,
1550 7
1561 15
1557 9 I1557V,
1555 9 E1555K,
343 14
1560 11 L1560F, L1560F
277 14
357 11
358 14
274 13 G274C,
273 11
1551 6 D1551N, D1551Y,
1559 12 I1559V,
1544 14 T1544P,
359 15 A359T, p.A359PfsX12,
1553 4 S1553R, S1553R, S1553R,
1547 9 V1547L, V1547L,
270 14 Q270K,
1554 8