ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1711A>G (p.Ile571Val) (rs587778431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121315 SCV000085486 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000554408 SCV000630438 uncertain significance Gastrointestinal stroma tumor 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 571 of the KIT protein (p.Ile571Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs587778431, ExAC 0.02%). This variant has not been reported in the literature in individuals with KIT-related disease. ClinVar contains an entry for this variant (Variation ID: 134622). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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