SCN5A Variant G983D
Summary of observed carriers, functional annotations, and structural context for SCN5A G983D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/18 effective observations
Estimated BrS1 penetrance
3%
0/18 effective observations
Total carriers
8
0 BrS1 · 0 LQT3 · 8 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-0.93 | 0.117 | -1.61 | 0.601 | 1 | 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
Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
27287068 | 2016 | 1 | 0 | 0 | 1 | biphasic T-wave morphology | |
Literature, cohort, and gnomAD | – | 8 | 8 | 0 | 0 | – | |
Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
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.
PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
---|---|---|---|---|---|---|
27287068 | 2016 | Oocytes | 140 |
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
968 | 15 | |
969 | 14 | G969C, G969S, |
970 | 14 | |
971 | 13 | R971H, R971C, |
972 | 13 | c.2914_2923delTTTGTCAAGC, |
973 | 12 | |
974 | 11 | K974D, |
975 | 11 | R975W, R975Q, |
976 | 10 | |
977 | 9 | |
978 | 8 | |
979 | 8 | D979H, |
980 | 7 | |
981 | 5 | C981F, |
982 | 4 | C982R, |
983 | 0 | G983D, |
984 | 4 | |
985 | 5 | |
986 | 7 | R986L, R986W, R986Q, |
987 | 8 | |
988 | 8 | R988W, R988Q, |
989 | 9 | |
990 | 10 | |
991 | 11 | K991E, K991T, |
992 | 11 | |
993 | 12 | A993T, A993S, |
994 | 13 | A994V, A994T, |
995 | 13 | L995F, |
996 | 14 | A996T, |
997 | 14 | A997S, A997T, A997D |
998 | 15 |