ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)

dbSNP: rs886043410
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000579307 SCV000339946 pathogenic not provided 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000579307 SCV000680704 pathogenic not provided 2022-01-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense 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 (ClinVar Variant ID# 286497; ClinVar); This variant is associated with the following publications: (PMID: 25525159, 20513134, 10729292, 26443184, 23022073, 29453956, 20179744, 31758797, 32756486, 32639332, 27408751, 28559085, 26582918)
Labcorp Genetics (formerly Invitae), Labcorp RCV000579307 SCV001591749 pathogenic not provided 2024-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg785*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal dominant Stickler syndrome (PMID: 10729292, 28559085). It has also been observed to segregate with disease in related individuals. This variant is also known as 22314 C-T, R585X. ClinVar contains an entry for this variant (Variation ID: 286497). For these reasons, this variant has been classified as Pathogenic.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV003380537 SCV004098662 pathogenic Stickler syndrome type 1 2023-10-20 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796151 SCV005416076 pathogenic Stickler syndrome type 1; Stickler syndrome, type I, nonsyndromic ocular criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Moderate+PP1_Strong+PP4

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