ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.881C>T (p.Ala294Val)

gnomAD frequency: 0.00002  dbSNP: rs373945151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771343 SCV002002558 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540535 SCV003496093 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2022-06-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1314112). This variant has not been reported in the literature in individuals affected with MITF-related conditions. This variant is present in population databases (rs373945151, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 187 of the MITF protein (p.Ala187Val).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989706 SCV004808251 uncertain significance Waardenburg syndrome type 2A 2024-03-29 criteria provided, single submitter clinical testing

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