ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) (rs201234369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666826 SCV000791184 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-05-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036080 SCV000059732 uncertain significance not specified 2013-03-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg740Trp varia nt in MYO7A has not been reported in affected individuals, but has been identifi ed in 0.01% (1/8430) of European American chromosomes and 0.1% (4/4230) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS/; dbSNP rs201234369). Although this vari ant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical amino acid prop erties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg740Trp variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of this vari ant cannot be determined with certainty; however, based upon its presence in the general population we would lean towards a more benign role.

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