ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2384C>G (p.Ala795Gly)

gnomAD frequency: 0.00001  dbSNP: rs760704637
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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 RCV000796109 SCV000935606 uncertain significance Gastrointestinal stromal tumor 2022-09-06 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: 642614). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs760704637, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 795 of the KIT protein (p.Ala795Gly).
Ambry Genetics RCV002458432 SCV002737056 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-09 criteria provided, single submitter clinical testing The p.A795G variant (also known as c.2384C>G), located in coding exon 17 of the KIT gene, results from a C to G substitution at nucleotide position 2384. The alanine at codon 795 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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