ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1426A>G (p.Ser476Gly)

dbSNP: rs2109768856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371219 SCV001567777 uncertain significance Gastrointestinal stromal tumor 2022-11-15 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1061606). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 476 of the KIT protein (p.Ser476Gly).
Ambry Genetics RCV002395842 SCV002702729 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-10 criteria provided, single submitter clinical testing The p.S476G variant (also known as c.1426A>G), located in coding exon 9 of the KIT gene, results from an A to G substitution at nucleotide position 1426. The serine at codon 476 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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