ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)

dbSNP: rs1401619267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882614 SCV002190845 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1658*) 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).
Myriad Genetics, Inc. RCV002307752 SCV002603006 likely pathogenic Usher syndrome type 1 2021-12-03 criteria provided, single submitter clinical testing NM_000260.3(MYO7A):c.4972C>T(Q1658*) is expected to be pathogenic in the context of MYO7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MYO7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822906 SCV001762435 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 no assertion criteria provided clinical testing

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