ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.731G>A (p.Arg244His) (rs121965081)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726411 SCV000344472 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000395205 SCV000711153 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing The p.Arg244His variant in MYO7A has been previously reported in one individual with hearing loss by our laboratory who had an alternate explanation for their h earing loss in another gene. In addition, it has been identified in 34/65670 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs121965081); however this frequency is not high enough to rule out a pathogenic role. A different amino acid change at the same position, p.Arg244Pro, has been reported in the homozygous state in 1 Chinese individual with hearing loss and vestibular dysfunction and segregated with disease in 2 af fected siblings (Liu 1997). Computational prediction tools and conservation anal ysis suggest the variant may impact the protein. These data suggest that variant s at this amino acid position are not tolerated; however this information is ins ufficient to assume pathogenicity. In summary, the clinical significance of the p.Arg244His is uncertain.

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