SCN5A Variant A572V
Summary of observed carriers, functional annotations, and structural context for SCN5A A572V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
1/78 effective observations
Estimated BrS1 penetrance
1%
0/78 effective observations
Total carriers
68
0 BrS1 · 1 LQT3 · 67 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 (%) |
---|---|---|---|---|---|
-0.37 | 0 | -0.64 | 0.496 | 3 | 4 |
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 |
---|---|---|---|---|---|---|---|
22360817 | 2012 | 1 | 1 | 0 | 0 | ||
19716085 | 2009 | 2 | 2 | 0 | 0 | ||
29214556 | 2017 | 1 | 0 | 0 | 1 | SCD | |
Literature, cohort, and gnomAD | – | 68 | 67 | 1 | 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.
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 |
---|---|---|
557 | 15 | H557L, H557Q, H557Q, H557Y, |
558 | 14 | H558R, |
559 | 14 | T559I, T559R, |
560 | 13 | |
561 | 13 | |
562 | 12 | |
563 | 11 | V563G, |
564 | 11 | |
565 | 10 | |
566 | 9 | |
567 | 8 | L567Q, |
568 | 8 | R568H, R568C, |
569 | 7 | c.1705dupC, R569W, R569Q, |
570 | 5 | T570N, |
571 | 4 | S571I, |
572 | 0 | A572S, A572D, A572V, A572F, |
573 | 4 | Q573X, Q573E, Q573R, |
574 | 5 | c.1721delG, G574E, |
575 | 7 | |
576 | 8 | |
577 | 8 | S577N, |
578 | 9 | P578R, P578T, |
579 | 10 | G579R, G579R, |
580 | 11 | |
581 | 11 | S581L, |
582 | 12 | |
583 | 13 | P583L, |
584 | 13 | G584R, |
585 | 14 | |
586 | 14 | A586G, A586T, p.586_587delAL, |
587 | 15 |