ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1581G>A (p.Ter527=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002474073 SCV002770098 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003775529 SCV004576412 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2023-01-16 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. ClinVar contains an entry for this variant (Variation ID: 1806644). This variant has not been reported in the literature in individuals affected with MITF-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change affects codon 420 of the MITF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MITF protein.

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