ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) (rs397516326)

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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 RCV000844724 SCV000059870 pathogenic Rare genetic deafness 2016-03-17 criteria provided, single submitter clinical testing The p.Ala2009fs variant in MYO7A has been reported in at least 10 unrelated indi viduals with Usher syndrome including 4 homozygotes and 3 compound heterozygotes , segregated with disease in one family, and was absent from over 400 race-match ed control chromosomes or large population studies (Bharadwaj 2000, Gerber 2006, Jaijo 2007, Jaijo 2009, Maubaret 2005, Najera 2002, Roux 2006, LMM data). This variant is predicted to cause a frameshift, which alters the protein's amino aci d sequence beginning at codon 2009 and leads to a premature stop codon 32 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathoge nic for Usher syndrome in an autosomal recessive manner. ACMG/AMP Criteria appli ed: PVS1, PM2, PM3_Very Strong, PP4.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000036218 SCV000259090 pathogenic Usher syndrome, type 1 2015-01-30 no assertion criteria provided clinical testing
Counsyl RCV000036218 SCV001132253 pathogenic Usher syndrome, type 1 2017-07-07 no assertion criteria provided clinical testing
Counsyl RCV000984197 SCV001132254 pathogenic Deafness, autosomal recessive 2 2017-07-07 no assertion criteria provided clinical testing

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