ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) (rs750647872)

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Total submissions: 3
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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 Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001214311 SCV001385986 pathogenic not provided 2019-10-23 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. This variant is present in population databases (rs750647872, ExAC 0.03%). This variant has not been reported in the literature in individuals with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 561263). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236). For these reasons, this variant has been classified as Pathogenic.

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