ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003988326 SCV004804069 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2024-01-31 criteria provided, single submitter clinical testing Variant summary: MYO15A c.439G>T (p.Glu147X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 240628 control chromosomes. To our knowledge, no occurrence of c.439G>T in individuals affected with Autosomal Recessive Nonsyndromic Hearing Loss 3 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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