ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) (rs373080197)

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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,Partners HealthCare Personalized Medicine RCV000155234 SCV000204920 uncertain significance not specified 2016-10-25 criteria provided, single submitter clinical testing The p.Asp1399His variant in MYO7A has now been identified by our laboratory in t wo individuals with hearing loss, but a variant affecting the second copy of the MYO7A gene was not identified and one of them had an alternate genetic etiology to explain the hearing loss. This variant has been identified in 3/55542 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs373080197). Computational prediction tools and conservation an alysis suggest that the p.Asp1399His variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, th e clinical significance of the p.Asp1399His variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000765017 SCV000896201 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-10-31 criteria provided, single submitter clinical testing

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