ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1621A>T (p.Met541Leu)

dbSNP: rs3822214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887556 SCV001031120 likely benign Gastrointestinal stromal tumor 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012440 SCV001172891 likely benign Hereditary cancer-predisposing syndrome 2019-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV003222166 SCV003918291 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with piebaldism (Murakami et al., 2004; Bondanza et al., 2007); This variant is associated with the following publications: (PMID: 17124503, 15194144)

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