ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2665A>G (p.Met889Val)

gnomAD frequency: 0.00014  dbSNP: rs727505098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156542 SCV000206261 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing Met889Val in exon 26 of MYO6: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, at least 3 mammals (alpaca, Bactrian camel, and platypus) have a valine (Val) at this position despite high nearby amino acid conservation.
GeneDx RCV001770118 SCV001993245 uncertain significance not provided 2023-11-15 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

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