ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) (rs773828910)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764549 SCV000895635 uncertain significance Gastrointestinal stroma tumor; Mastocytosis; Partial albinism; Malignant tumor of testis; Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000233983 SCV000283936 uncertain significance Gastrointestinal stroma tumor 2018-09-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 961 of the KIT protein (p.Gly961Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs773828910, ExAC 0.001%). This variant has not been reported in the literature in individuals with KIT-related disease. ClinVar contains an entry for this variant (Variation ID: 237271). 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.
Kopetz Lab,MD Anderson Cancer Center RCV000509029 SCV000606821 drug response Regorafenib response 2017-03-08 no assertion criteria provided clinical testing

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