ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.119A>G (p.His40Arg)

gnomAD frequency: 0.00001  dbSNP: rs373374682
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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 RCV001238035 SCV001410829 uncertain significance Gastrointestinal stromal tumor 2022-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs373374682, gnomAD 0.003%). 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: 963920). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 40 of the KIT protein (p.His40Arg).
Ambry Genetics RCV003373078 SCV004098443 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-18 criteria provided, single submitter clinical testing The p.H40R variant (also known as c.119A>G), located in coding exon 2 of the KIT gene, results from an A to G substitution at nucleotide position 119. The histidine at codon 40 is replaced by arginine, 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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