ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2185T>G (p.Ser729Ala)

gnomAD frequency: 0.00001  dbSNP: rs773953640
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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 RCV001312353 SCV001502801 uncertain significance Gastrointestinal stromal tumor 2020-09-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs773953640, ExAC 0.009%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIT-related conditions. This sequence change replaces serine with alanine at codon 729 of the KIT protein (p.Ser729Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine.
Ambry Genetics RCV002430124 SCV002729396 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-23 criteria provided, single submitter clinical testing The p.S729A variant (also known as c.2185T>G), located in coding exon 15 of the KIT gene, results from a T to G substitution at nucleotide position 2185. The serine at codon 729 is replaced by alanine, 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.

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