ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) (rs727505131)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156589 SCV000206308 uncertain significance not specified 2014-06-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala51Val varian t in SCN5A has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to assess the frequency of th is variant. Computational prediction tools and conservation analysis suggest tha t this variant may not impact the protein and several mammals (dolphin, killer w hale, and tenrec) have a valine (Val) at this position, suggesting that this cha nge may be tolerated, though this information is not predictive enough to rule o ut pathogenicity. In summary, while the clinical significance of the Ala51Val va riant is uncertain, the presence of the variant amino acid in other mammals sugg ests that is more likely to be benign.
Fulgent Genetics,Fulgent Genetics RCV000765742 SCV000897110 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1, autosomal recessive; Progressive familial heart block, type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2018-10-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV001179112 SCV001343712 uncertain significance Arrhythmia 2020-04-20 criteria provided, single submitter clinical testing

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