ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.977A>G (p.Asn326Ser)

dbSNP: rs2109705178
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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 RCV002019730 SCV002282420 uncertain significance Gastrointestinal stromal tumor 2023-04-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIT-related conditions. 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: 1497054). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 326 of the KIT protein (p.Asn326Ser).
Ambry Genetics RCV004045515 SCV005033464 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-19 criteria provided, single submitter clinical testing The p.N326S variant (also known as c.977A>G), located in coding exon 6 of the KIT gene, results from an A to G substitution at nucleotide position 977. The asparagine at codon 326 is replaced by serine, an amino acid with highly 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.

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