ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) (rs121912947)

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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 RCV000605765 SCV000731418 likely pathogenic Rare genetic deafness 2017-08-15 criteria provided, single submitter clinical testing The p.Arg1034Cys variant in COL11A2 has been reported in 3 unrelated individuals with hearing loss and segregated in 25 affected relatives in 2 families with au tosomal dominant nonsyndromic sensorineural hearing loss (McGuirt 1999, LMM data ). It has not been identified in large population studies. Computational predict ion tools and conservation analysis suggest that the variant may impact the prot ein. Variants in COL11A2 have been associated with both dominant and recessive h earing loss that can be either syndromic or nonsyndromic. However, there have be en only 2 families with autosomal dominant nonsyndromic hearing loss with signif icant segregation data in the published literature (McGuirt 1999). In summary, a lthough additional studies are required to fully establish its clinical signific ance, the p.Arg1034Cys variant is likely pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091818 SCV001248041 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
OMIM RCV000018662 SCV000038945 pathogenic Deafness, autosomal dominant 13 1999-12-01 no assertion criteria provided literature only

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