SCN5A Variant F1973L

Summary of observed carriers, functional annotations, and structural context for SCN5A F1973L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

5%

0/12 effective observations

Estimated BrS1 penetrance

5%

0/12 effective observations

Total carriers

2

0 BrS1 · 0 LQT3 · 2 unaffected

F1973L is present in 2 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 (%)
-1.72 0 0.43 0.215 0 3

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 – 2 2 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 F1973L.
Neighbour residue Distance (Å) Observed variants
1958 15 R1958P, R1958Q, R1958X,
1959 14
1960 14
1961 13
1962 13 P1962S, P1962L,
1963 12 P1963L,
1964 11 S1964F,
1965 11 S1965N, S1965G,
1966 10
1967 9 p.S1967LfsX12,
1968 8 I1968T, I1968M, I1968V, I1968N, I1968S,
1969 8
1970 7 p.S1970_S1972del,
1971 5
1972 4
1973 0 F1973L,
1974 4
1975 5 P1975T,
1976 7 S1976C,
1977 8 Y1977N,
1978 8
1979 9
1980 10 V1980F,
1981 11
1982 11 R1982T,
1983 12 A1983V, A1983G,
1984 13 T1984I,
1985 13 S1985R,
1986 14 D1986N, D1986G,
1987 14 N1987K,
1988 15 L1988R,