ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) (rs111033285)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036253 SCV000059905 pathogenic Rare genetic deafness 2018-01-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000421042 SCV000521009 pathogenic not provided 2016-10-19 criteria provided, single submitter clinical testing The Y333X nonsense variant in the MYO7A gene has been published in association with Usher (Weston et al., 1996; Roux et al., 2011; Jacobson et al., 2008). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y333X variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000421042 SCV000854941 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075598 SCV001241225 pathogenic Retinal dystrophy 2019-01-19 criteria provided, single submitter clinical testing
Invitae RCV000421042 SCV001395944 pathogenic not provided 2020-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr333*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with MYO7A-related conditions (PMID: 8900236, 30390570, 26969326, 27344577). ClinVar contains an entry for this variant (Variation ID: 43345). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000670120 SCV000794937 pathogenic Deafness, autosomal recessive 2 2017-10-19 no assertion criteria provided clinical testing
Natera, Inc. RCV001275899 SCV001461550 pathogenic Usher syndrome, type 1B 2020-09-16 no assertion criteria provided clinical testing

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