ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)

gnomAD frequency: 0.00001  dbSNP: rs772889503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309320 SCV001498815 likely benign not provided 2024-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001309320 SCV002522102 uncertain significance not provided 2021-11-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); Has not been previously published as pathogenic or benign to our knowledge
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796599 SCV005416569 uncertain significance Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type criteria provided, single submitter clinical testing PM2

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