ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile)

gnomAD frequency: 0.00007  dbSNP: rs78962087
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216383 SCV000269239 benign not specified 2015-11-12 criteria provided, single submitter clinical testing p.Leu455Ile in exon 10 of MITF: This variant is not expected to have clinical si gnificance because it has been identified in 0.95% (82/8642) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs78962087).
Invitae RCV002517453 SCV001058397 benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145707 SCV001306400 benign Tietz syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001145708 SCV001306401 benign Waardenburg syndrome type 2A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000913254 SCV001886994 benign not provided 2019-12-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29115496)
PreventionGenetics, part of Exact Sciences RCV003937806 SCV004748769 benign MITF-related condition 2020-07-09 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV000216383 SCV003839716 benign not specified 2022-05-06 no assertion criteria provided clinical testing

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