ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) (rs121913512)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000418637 SCV001592854 pathogenic Gastrointestinal stromal tumor 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 642 of the KIT protein (p.Lys642Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with familial gastrointestinal stromal tumors (PMID: 23648119, 22626674, 29098070, 17824795). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13866). Experimental studies have shown that this variant affects KIT protein function (PMID: 11073817). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014880 SCV000035135 pathogenic Gastrointestinal stromal tumor, familial 2000-11-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419318 SCV000504988 likely pathogenic Melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429594 SCV000504989 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436303 SCV000504990 likely pathogenic Hematologic neoplasm 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418637 SCV000504991 likely pathogenic Gastrointestinal stromal tumor 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428892 SCV000504992 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only

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