SCN5A Variant G502V

Summary of observed carriers, functional annotations, and structural context for SCN5A G502V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0/10 effective observations

Estimated BrS1 penetrance

21%

2/10 effective observations

Total carriers

0 BrS1 · 0 LQT3 · 0 unaffected

G502V has not been reported 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 2 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	0.59	26	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

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	13	0	2	–	–

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 G502V.
Neighbour residue	Distance (Å)	Observed variants
487	15
488	14
489	14
490	13	G490E, G490A,
491	13	E491G,
492	12
493	11	R493K,
494	11
495	10
496	9	K496M, K496N, K496N,
497	8	S497C,
498	8
499	7
500	5	E500K,
501	4	D501G,
502	0
503	4	P503S,
504	5	R504T,
505	7	A505E,
506	8	M506K,
507	8	p.N507_L515dup,
508	9
509	10
510	11
511	11
512	12	T512I,
513	13	R513C, c.1537delC, R513H, R513P,
514	13	G514C,
515	14
516	14
517	15	R517S, R517S