ClinVar Miner

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

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Total submissions: 6
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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.
Invitae RCV001046525 SCV001210430 pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2009Profs*32) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Usher syndrome (PMID: 10930322, 10930322, 25404053). This variant is also known as Met2018 (1-bp del G) in the literature. ClinVar contains an entry for this variant (Variation ID: 43313). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075853 SCV001241492 pathogenic Retinal dystrophy 2019-08-08 criteria provided, single submitter clinical testing
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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