ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2317T>G (p.Ser773Ala)

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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 RCV002448068 SCV002733496 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-01 criteria provided, single submitter clinical testing The p.S773A variant (also known as c.2317T>G), located in coding exon 16 of the KIT gene, results from a T to G substitution at nucleotide position 2317. The serine at codon 773 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003526201 SCV004305792 uncertain significance Gastrointestinal stromal tumor 2023-03-08 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1789505). 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 alanine, which is neutral and non-polar, at codon 773 of the KIT protein (p.Ser773Ala). 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.

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