ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2377T>G (p.Leu793Val)

dbSNP: rs558702741
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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 RCV000822771 SCV000963588 uncertain significance Gastrointestinal stromal tumor 2023-07-30 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. 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: 664638). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs558702741, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 793 of the KIT protein (p.Leu793Val).
Ambry Genetics RCV004029114 SCV005033079 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-14 criteria provided, single submitter clinical testing The p.L793V variant (also known as c.2377T>G), located in coding exon 17 of the KIT gene, results from a T to G substitution at nucleotide position 2377. The leucine at codon 793 is replaced by valine, an amino acid with highly 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.

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