ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) (rs121912893)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481275 SCV000568539 pathogenic not provided 2019-01-07 criteria provided, single submitter clinical testing The R653X variant in the COL2A1 gene has been reported in multiple individuals with Stickler syndrome (Wilkin et al., 2000; Liberfarb et al., 2003; Richards et al., 2005; Hoornaert et al., 2010; Richards et al., 2010; Savasta et al., 2015), and is estimated to account for 2% of molecularly confirmed cases of Stickler syndrome type 1 (Barat-Houari et al., 2016a). R653X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the COL2A1 gene have been reported in Human Gene Mutation Database in association with Stickler syndrome and other COL2A1-related disorders (Stenson et al., 2014). Furthermore, R653X is not observed in large population cohorts (Lek et al., 2016).
Fulgent Genetics,Fulgent Genetics RCV000762896 SCV000893296 pathogenic Achondrogenesis type II; Avascular necrosis of the head of femur; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Coxa plana; Kniest dysplasia; Osteoarthritis with mild chondrodysplasia; Spondyloperipheral dysplasia-short ulna syndrome; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, stanescu type 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000018938 SCV000039224 pathogenic Stickler syndrome type 1 2003-09-01 no assertion criteria provided literature only
OMIM RCV000018939 SCV000039225 pathogenic Rhegmatogenous retinal detachment, autosomal dominant 2003-09-01 no assertion criteria provided literature only
GeneReviews RCV000018938 SCV000190933 pathogenic Stickler syndrome type 1 2014-09-11 no assertion criteria provided literature only

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