ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2283-1G>T (rs397516295)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844717 SCV000059734 pathogenic Rare genetic deafness 2012-03-20 criteria provided, single submitter clinical testing The c.2283-1G>T variant in MYO7A has been reported in 8 probands with Usher synd rome (Roux 2011, Bonnet 2011, Jaijo 2011, Roux 2006). 6/8 of these probands were homozygous and 2/8 compound heterozygous. The variant segregated with the disea se in one family and it was absent from 200 control chromosomes (Jaijo 2011). Th e variant alters the invariant region of the 3' splice sequence which leads to s kipping of exon 20, as shown by the analysis of the RNA (Jaijo 2011). In summar y, this variant meets our criteria to be classified as pathogenic for autosomal recessive Usher syndrome.
Counsyl RCV000666504 SCV000790809 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2018-05-30 criteria provided, single submitter clinical testing
GeneReviews RCV000036082 SCV000268742 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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