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

gnomAD frequency: 0.07727  dbSNP: rs3822214

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000121313	SCV000303052	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370023	SCV000449886	likely benign	Gastrointestinal stromal tumor	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000261290	SCV000449887	likely benign	Mastocytosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000315844	SCV000449888	likely benign	Piebaldism	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV001012439	SCV001172890	benign	Hereditary cancer-predisposing syndrome	2019-05-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000370023	SCV001716496	benign	Gastrointestinal stromal tumor	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000034504	SCV001882956	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 18795925, 24728327, 22703879)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000370023	SCV004015783	benign	Gastrointestinal stromal tumor	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000034504	SCV005257372	likely benign	not provided		criteria provided, single submitter	not provided
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034504	SCV000043281	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
ITMI	RCV000121313	SCV000085484	not provided	not specified	2013-09-19	no assertion provided	reference population
Institute of Medical Sciences, Banaras Hindu University	RCV001255636	SCV001432197	pathogenic	Lip and oral cavity carcinoma	2019-04-30	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000121313	SCV001977832	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000121313	SCV001979651	benign	not specified		no assertion criteria provided	clinical testing