SCN5A Variant V751F

Summary of observed carriers, functional annotations, and structural context for SCN5A V751F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

10%

0/11 effective observations

Estimated BrS1 penetrance

12%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

V751F is present in 1 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 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 (%)
-3.99 0.655 0.74 0.779 9 10

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 V751F.
Neighbour residue Distance (Å) Observed variants
758 11 G758E,
742 14 T742A,
811 13 R811G, c.2435_2436+3delTGGTAinsCGCCT, R811H,
733 9 F733L,
741 14 p.M741_T742delinsI ,
808 14 R808P, R808C, R808H,
745 11
746 10 E746K,
760 14 p.F760SfsX5,
759 12 p.I759FfsX6, I759V, c.2274delG,
792 14
755 6
731 15 T731I,
800 13 R800L, R800H, R800C,
754 5
726 13
737 14
750 5 Q750R,
749 7
743 12
747 6 E747A,
732 14
734 13 c.2201dupT, M734V,
756 8
814 15 R814Q,
757 10
744 12
752 4 G752R,
751 0 V751I, V751F,
796 12
736 14 L736P,
730 11 N730K,
753 6
729 12 p.L729del,
795 14
748 6 M748I,
799 14