ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1384C>A (p.Leu462Ile)

dbSNP: rs1722186242
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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 RCV001060739 SCV001225447 uncertain significance Gastrointestinal stromal tumor 2019-12-03 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 leucine with isoleucine at codon 462 of the KIT protein (p.Leu462Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine.
Ambry Genetics RCV004031928 SCV005033118 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The p.L462I variant (also known as c.1384C>A), located in coding exon 9 of the KIT gene, results from a C to A substitution at nucleotide position 1384. The leucine at codon 462 is replaced by isoleucine, 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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