ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)

gnomAD frequency: 0.00003  dbSNP: rs750647872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV000680440 SCV000807812 likely pathogenic Usher syndrome type 1B 2018-03-10 criteria provided, single submitter clinical testing This variant produces a premature stop signal at position 1336 of the MYO7A protein, designated as p.Gln1336Ter or Q1336*. The substitution is predicted to result in a non-functional protein, either through protein truncation or nonsense-mediated mRNA decay. This mutation is considered a non-tolerated amino acid change based on in silico prediction algorithms (disease causing), and it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH), but it has been described in 3 alleles out of 120168 belonging to heterozygous carries of Latino origin by the Exome Aggregation Consortium (ExAC). Based on these findings and the limited literature regarding this substitution we consider it as a likely pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV000763281 SCV000893925 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 RCV001214311 SCV001385986 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1336*) 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 present in population databases (rs750647872, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 561263). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001214311 SCV001812071 pathogenic not provided 2022-09-20 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; Has not been previously published as pathogenic or benign to our knowledge

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