ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.78del (p.Asp27fs)

dbSNP: rs1771411002
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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 RCV001195594 SCV001365990 likely pathogenic Nonsyndromic genetic hearing loss 2019-11-26 criteria provided, single submitter clinical testing The p.Asp27ThrfsX3 variant in MYO6 has not been previously reported in individuals with hearing loss and was absent from large population studies. This frameshift variant is expected to alter the protein’s amino acid sequence beginning at position 27 and lead to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the MYO6 gene is an established disease mechanism in autosomal dominant hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant hearing loss. ACMG/AMP Criteria applied: PVS1, PM2.

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