ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665987 SCV000790213 pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-03-15 criteria provided, single submitter clinical testing
GeneReviews RCV000036223 SCV000268746 pathogenic Usher syndrome, type 1 2016-05-19 no assertion criteria provided literature only
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.

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