ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)

dbSNP: rs121913514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000419670 SCV000814521 uncertain significance Gastrointestinal stromal tumor 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 822 of the KIT protein (p.Asn822Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported as a germline variant in the literature in individuals with KIT-related disease. ClinVar contains an entry for this variant (Variation ID: 375931). Experimental studies have shown that this missense change results in constitutive phosphorylation of the KIT protein, increased cell proliferation in the presence of low concentration of growth factors, impaired apoptosis promotion, and resistance to low doses of imatinib (PMID: 14645423, 14695343, 17699867, 20890793, 28506695). 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.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269701 SCV001449892 pathogenic not provided 2017-03-07 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000419670 SCV000504217 likely pathogenic Gastrointestinal stromal tumor 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429954 SCV000504218 likely pathogenic Acute myeloid leukemia 2014-12-26 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436687 SCV000504219 pathogenic Melanoma 2014-10-02 no assertion criteria provided literature only

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