ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.397dup (p.His133fs) (rs111033187)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000036133 SCV000487442 likely pathogenic Usher syndrome type 1 2016-11-03 criteria provided, single submitter clinical testing
Counsyl RCV000409086 SCV000487443 likely pathogenic Deafness, autosomal recessive 2 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV001212883 SCV001384485 pathogenic not provided 2019-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His133Profs*7) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs782796317, ExAC 0.2%). This variant has been observed in individual(s) with Usher syndrome (PMID:21569298, 22898263). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.390_391insC in the literature. ClinVar contains an entry for this variant (Variation ID: 43229). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844713 SCV000059785 likely pathogenic Rare genetic deafness 2008-03-01 no assertion criteria provided clinical testing

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