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SCN5A Variant L771V

Summary of observed carriers, functional annotations, and structural context for SCN5A L771V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

52%

3/11 effective observations

Estimated BrS1 penetrance

16%

1/11 effective observations

Total carriers

1

0 BrS1 · 1 LQT3 · 0 unaffected

L771V has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 2 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
-1.63 0.978 -2.31 0.779 18 62

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
26940925 2016 1 1 0 0
Literature, cohort, and gnomAD 1 0 1 0
Variant features alone 15 12 2 1

Totals may differ from individual publications due to duplicate patients removed during curation.

Functional data

Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.

Published electrophysiology measurements.
PubMed ID Year Cell Type Peak Current (% WT) V1/2 Activation (mV) V1/2 Inactivation (mV) Late/Persistent Current (% WT)
26940925 2016

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 L771V.
Neighbour residue Distance (Å) Observed variants
719 13
710 9
766 10
715 10 M715I, M715T,
713 11
712 11
762 13
774 10 Y774D, c.2320delT, Y774C, p.Y774TfsX28,
763 12 E763K, E763D
778 10
767 6
772 5 D772N,
770 4
781 14 W781X,
775 7
771 0 L771V,
720 13
785 13 D785N,
783 13 I783T,
769 7
773 7 P773S,
714 7 V714D, V714A,
780 13
776 6 p.Y776del,
768 6
765 10
786 13
711 7
779 10 Q779X, Q779K,
764 10 M764R, M764K,
777 9 F777L,
782 9 N782T,
716 13