ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)

gnomAD frequency: 0.00001  dbSNP: rs111033180
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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, Mass General Brigham Personalized Medicine RCV000844715 SCV000059720 pathogenic Rare genetic deafness 2006-10-28 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000036068 SCV000890866 pathogenic Usher syndrome type 1 2017-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763275 SCV000893919 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001238560 SCV001411380 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg634*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 19074810). ClinVar contains an entry for this variant (Variation ID: 43164). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001238560 SCV001819796 pathogenic not provided 2021-02-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32467589, 19074810, 25575603, 18564497, 9718356, 25525159)
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital RCV001238560 SCV005328473 likely pathogenic not provided 2024-06-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272497 SCV001454569 pathogenic Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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