ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) (rs201892914)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410053 SCV000487484 likely pathogenic Usher syndrome type 1 2016-11-10 criteria provided, single submitter clinical testing
Counsyl RCV000411572 SCV000487485 likely pathogenic Deafness, autosomal recessive 2 2016-11-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844718 SCV000710855 pathogenic Rare genetic deafness 2016-07-07 criteria provided, single submitter clinical testing The p.Gln775X variant in MYO7A has been reported in the compound heterozygous st ate in one individual with hearing loss who had a likely diagnosis of Usher synd rome (Sloan-Heggen 2016). It has been identified in 1/5994 African chromosomes a nd 2/43186 European chromosome by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs201892914); This low frequency in the general population is consistent with the carrier frequency for hearing loss or Usher sy ndrome. This nonsense variant leads to a premature termination codon at position 775, which is predicted to lead to a truncated or absent protein. In summary, t his variant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner.

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