ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) (rs121912874)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478360 SCV000568538 pathogenic not provided 2018-08-02 criteria provided, single submitter clinical testing The R989C variant in the COL2A1 gene has been reported previously using alternate nomenclature R789C in individuals with spondyloepiphyseal dysplasia congenita (Chan et al., 1993; Nishimura et al., 2005; Hoornaert et al., 2006). The R989C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R989C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. Functional studies using an inducible expression system for expressing R989C, showed that even a small amount of the R989C mutant collagen would induce aberrations in the cell/matrix systems (Jensen et al., 2011). We interpret R989C as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000762895 SCV000893295 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
Institute of Human Genetics,Klinikum rechts der Isar RCV000995718 SCV001150043 pathogenic Spondyloperipheral dysplasia-short ulna syndrome 2019-05-27 criteria provided, single submitter clinical testing
OMIM RCV000018910 SCV000039194 pathogenic Spondyloepiphyseal dysplasia congenita 1997-01-01 no assertion criteria provided literature only

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