ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.503C>G (p.Ala168Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335656 SCV002640966 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter clinical testing The p.A168G variant (also known as c.503C>G), located in coding exon 3 of the KIT gene, results from a C to G substitution at nucleotide position 503. The alanine at codon 168 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096581 SCV003467067 uncertain significance Gastrointestinal stromal tumor 2022-12-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 168 of the KIT protein (p.Ala168Gly). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1744939). This variant has not been reported in the literature in individuals affected with KIT-related conditions.

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