ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) (rs141423593)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239357 SCV000297106 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000239357 SCV000338180 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000239357 SCV000516918 benign not specified 2017-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659400 SCV000781211 uncertain significance Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000959727 SCV001106649 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110809 SCV001268291 benign Stickler syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001110810 SCV001268292 uncertain significance Type II Collagenopathies 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286178 SCV001472707 uncertain significance none provided 2020-03-30 criteria provided, single submitter clinical testing The COL2A1 c.2574C>T; p.Gly858Gly variant (rs141423593) is reported in the literature in an individual affected with early-onset osteoarthritis (Jakkula 2005). This variant is reported in ClinVar (Variation ID: 252593), and is found in the general population with an overall allele frequency of 0.26% (712/278560 alleles, including a single homozygote) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. While the high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of the p.Gly858Gly variant is uncertain at this time. References: Jakkula E et al. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. Osteoarthritis Cartilage. 2005 Jun;13(6):497-507.

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