ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1760A>G (p.Asn587Ser)

dbSNP: rs1577995255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205933 SCV001377215 uncertain significance Gastrointestinal stromal tumor 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 587 of the KIT protein (p.Asn587Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KIT-related conditions. 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: "Benign"; Align-GVGD: "Class C15"). 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.

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