ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs)

dbSNP: rs1583208411
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Total submissions: 1
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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 RCV000826181 SCV000967722 likely pathogenic Rare genetic deafness 2018-12-14 criteria provided, single submitter clinical testing The p.Tyr87PhefsX11 variant in MYO6 has not been previously reported in individu als with hearing loss and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid seque nce beginning at position 87 and leads to a premature termination codon 11 amino acids downstream. This alteration is then predicted to lead to a truncated or a bsent protein. Loss of function of the MYO6 gene is an established disease mecha nism in autosomal dominant hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets c riteria to be classified as likely pathogenic for autosomal dominant hearing los s. ACMG/AMP Criteria applied: PVS1, PM2.

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