ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) (rs369195493)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036064 SCV000059716 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing The p.Arg616Trp variant in MYO7A has been reported in 2 individuals with sensori neural hearing loss and segregated with disease in one relative (Sommen 2016, LM M data). It has been identified in 4/9492 of European chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369195493). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Arg616Trp is uncertain.
Counsyl RCV000665882 SCV000790077 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756409 SCV000884212 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing The p.Arg616Trp variant (rs369195493) has been previously identified in cohort of patients with suspected autosomal recessive hearing loss (Sommen 2016); however, no clinically relevant details were provided to independently assess the significance of this observation. This variant is also listed in the ClinVar database as a variant of uncertain significance (Variation ID: 43160). It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish Europeans populations of 0.03% (identified in 21 out of 79,010 chromosomes). The arginine at codon 616 is moderately conserved considering 13 species (Alamut software v2.9), although computational analyses suggest this variant has a significant effect on MYO7A protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, and Mutation Taster: disease causing). However, based on the available information, the clinical significance of the p.Arg616Trp variant cannot be determined with certainty.

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