SCN5A Variant S471R

Summary of observed carriers, functional annotations, and structural context for SCN5A S471R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/10 effective observations

Estimated BrS1 penetrance

8%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

S471R has not been reported 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 (%)
NA NA NA 0.108 7 1

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 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 S471R.
Neighbour residue Distance (Å) Observed variants
456 15 V456M,
457 14
458 14 R458C, p.R458VfsX12, R458H,
459 13 S459G,
460 13
461 12 L461V,
462 11 E462K, E462A,
463 11 M463T, M463R,
464 10
465 9 p.P465LfsX5,
466 8 L466F, L466F,
467 8
468 7 P468L,
469 5 V469I,
470 4 N470K, N470K,
471 0
472 4
473 5 E473X,
474 7 R474K, R474G,
475 8 R475K, R475S, R475S,
476 8
477 9 c.1428_1431delCAAG,
478 10
479 11
480 11 K480N, K480N,
481 12 R481W, R481Q,
482 13 M482I, M482I, M482I,
483 13
484 14
485 14
486 15 T486A, T486S, T486S,