ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)

dbSNP: rs1957904821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263998 SCV001442096 likely pathogenic Usher syndrome type 1 2019-12-21 criteria provided, single submitter clinical testing
GeneID Lab - Advanced Molecular Diagnostics RCV001263998 SCV002011829 likely pathogenic Usher syndrome type 1 2019-02-07 criteria provided, single submitter clinical testing This variant creates a premature translational stop signal referred to as p.Tyr2084Ter or p.Y2084* in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This mutation is considered a non-tolerated amino acid change based on “in silico” prediction algorithms (disease causing). This variant is not present in the gnomAD exomes database. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, we consider this finding as a "likely pathogenic variant" related to Usher Syndrome.

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