ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2234G>T (p.Gly745Val)

dbSNP: rs2109794840
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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 RCV001372070 SCV001568658 uncertain significance Gastrointestinal stromal tumor 2020-05-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with KIT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 745 of the KIT protein (p.Gly745Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine.
Ambry Genetics RCV004951641 SCV005608787 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-06 criteria provided, single submitter clinical testing The p.G745V variant (also known as c.2234G>T) is located in coding exon 16 of the KIT gene. The glycine at codon 745 is replaced by valine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 16. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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