ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) (rs111033232)

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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 RCV000036213 SCV000059865 pathogenic Rare genetic deafness 2011-03-08 criteria provided, single submitter clinical testing The Phe1963del variant in MYO7A has been previously reported in the literature i n three individual with clinical features of Usher syndrome and was not identifi ed in 352 control chromosomes (Roux 2006, Baux 2008 ? unpublished data from the UMD database). Two of these individuals had a second MYO7A variant and one indiv idual was homozygous for this variant. In addition, our laboratory has detected this variant as a compound heterozygous variant in two sets of affected siblings . The Phe1963del variant is predicted to cause an inframe deletion, which alters the protein's amino acid sequence by removing the phenylalanine amino acid at p osition 1963. In summary, this variant meets our criteria to be classified as pa thogenic.
Invitae RCV001064922 SCV001229858 pathogenic not provided 2020-09-17 criteria provided, single submitter clinical testing This variant, c.5886_5888del, results in the deletion of 1 amino acid of the MYO7A protein (p.Phe1963del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745646247, ExAC 0.02%). This variant has been observed in several individuals affected with MYO7A-related conditions (PMID: 16679490, 30459346, 29142287, 24199935, 31479088. In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.Phe1962del in the literature. ClinVar contains an entry for this variant (Variation ID: 43308). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376327 SCV001573435 pathogenic Usher syndrome type 1 2021-04-08 criteria provided, single submitter research The MYO7A c.5886_5888del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP1, PM3. Based on this evidence we have classified this variant as Pathogenic.

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