ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser)

gnomAD frequency: 0.00001  dbSNP: rs371469522
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841134 SCV001358714 uncertain significance Cardiac arrhythmia 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 1131 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has been identified in 4/238444 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002497667 SCV002805591 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-09-29 criteria provided, single submitter clinical testing
GeneDx RCV003442756 SCV004170119 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV003442756 SCV004279589 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 927646). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. This variant is present in population databases (rs371469522, gnomAD 0.004%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1131 of the SCN5A protein (p.Thr1131Ser).
All of Us Research Program, National Institutes of Health RCV001841134 SCV004833113 uncertain significance Cardiac arrhythmia 2023-05-04 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 1131 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has been identified in 4/238444 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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