ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) (rs111033198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844725 SCV000059875 pathogenic Rare genetic deafness 2011-07-26 criteria provided, single submitter clinical testing The Arg2024X variant in MYO7A has been reported in one proband with Usher syndro me who was compound heterozygous with a second pathogenic MYO7A variant (Jacobso n 2008). In addition, the Arg2024X variant leads to a premature stop codon at po sition 2024, which is predicted to lead to a truncated or absent protein. In sum mary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000665987 SCV000790213 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV001210670 SCV001382167 pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2024*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with Usher syndrome (PMID: 19074810, 30459346, 22135276). ClinVar contains an entry for this variant (Variation ID: 43318). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000036223 SCV000268746 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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