ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5710dup (p.His1904fs)

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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 RCV004782198 SCV005395855 pathogenic Usher syndrome 2024-09-16 criteria provided, single submitter clinical testing Variant summary: MYO7A c.5710dupC (p.His1904ProfsX7) 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 247928 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5710dupC in individuals affected with Usher Syndrome 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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