SCN5A Variant G1391R

Summary of observed carriers, functional annotations, and structural context for SCN5A G1391R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/19 effective observations

Estimated BrS1 penetrance

4%

0/19 effective observations

Total carriers

9

0 BrS1 · 0 LQT3 · 9 unaffected

G1391R is present in 9 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 0 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 (%)
-2.76 0.951 1.1 0.628 4 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 – 9 9 0 0 –
Variant features alone – 15 15 0 0 – –

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 G1391R.
Neighbour residue Distance (Å) Observed variants
1391 0 G1391R, G1391R,
1366 15 Q1366H, Q1366H, Q1366R,
1381 11
1396 13
1435 14
1379 15
1386 9
1394 10 Y1394X,
1388 8
1393 7 L1393X,
1387 11 L1387F, L1387F,
1437 12
1361 14
1384 12 C1384Y,
1382 14 S1382I,
1395 10
1390 4
1363 9 C1363Y,
1385 9
1365 11 N1365S,
1383 15 Q1383X,
1380 14 p.N1380del, N1380K, N1380K,
1389 5
1392 5
1436 14
1364 13 I1364V,