ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly)

gnomAD frequency: 0.00001  dbSNP: rs946169910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821712 SCV000962481 uncertain significance Long QT syndrome 10 2022-02-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 663765). This variant has not been reported in the literature in individuals affected with SCN4B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 14 of the SCN4B protein (p.Trp14Gly).
Ambry Genetics RCV002319909 SCV002631440 uncertain significance Cardiovascular phenotype 2021-10-16 criteria provided, single submitter clinical testing The p.W14G variant (also known as c.40T>G), located in coding exon 1 of the SCN4B gene, results from a T to G substitution at nucleotide position 40. The tryptophan at codon 14 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000821712 SCV002787334 uncertain significance Long QT syndrome 10 2021-07-21 criteria provided, single submitter clinical testing

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