ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) (rs1052030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664572 SCV000788559 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000813222 SCV000953569 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu16*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs1052030, ExAC 0.002%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with Usher syndrome (PMID: 10094549). This finding is consistent with autosomal recessive inheritance and suggests that this variant contributes to disease. 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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