ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1691A>G (p.Asn564Ser)

dbSNP: rs769483857
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206820 SCV001378149 uncertain significance Gastrointestinal stromal tumor 2019-06-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs769483857, ExAC 0.009%). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIT-related conditions. This sequence change replaces asparagine with serine at codon 564 of the KIT protein (p.Asn564Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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