ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) (rs121912873)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725373 SCV000336451 pathogenic not provided 2015-10-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000725373 SCV000885224 pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing The COL2A1 c.3138delT; p.Gly1047fs variant (rs121912873) has been described in individuals with Stickler syndrome (Hoornaert 2010, Richards 2010). It is reported as pathogenic in ClinVar (Variation ID: 17365) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant creates a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered pathogenic. References: Hoornaert K et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010 Aug;18(8):872-80. Richards A et al. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Hum Mutat. 2010 Jun;31(6):E1461-71.
GeneDx RCV000725373 SCV001803780 pathogenic not provided 2020-05-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in ClinVar as pathogenic (ClinVar Variant ID# 17365; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31872526, 8406454, 29453956)
OMIM RCV000018909 SCV000039193 pathogenic Stickler syndrome type 1 1993-07-01 no assertion criteria provided literature only

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