ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.513G>A (p.Pro171=)

gnomAD frequency: 0.00003  dbSNP: rs774998383
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553188 SCV001774009 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268516 SCV002550859 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568345 SCV003018376 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004945692 SCV005444988 likely benign Hereditary cancer-predisposing syndrome 2024-10-05 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.
PreventionGenetics, part of Exact Sciences RCV004746422 SCV005352933 likely benign MITF-related disorder 2024-04-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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