ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) (rs748459670)

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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 RCV000479858 SCV000230653 pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000479858 SCV000568530 pathogenic not provided 2020-10-31 criteria provided, single submitter clinical testing Has been reported in multiple individuals with Stickler syndrome (Richards et al., 2006; Hoornaert et al., 2010; Richards et al., 2010; Savasta et al., 2015; Barat-Houari et al., 2016a; Kondo et al., 2016).; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 as pathogenic (ClinVar Variant ID# 197503; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25809783, 25525159, 16752401, 20179744, 23891399, 29453956, 26443184, 20513134, 27408751, 29661559, 32756486)
Mendelics RCV000988819 SCV001138704 pathogenic Stickler syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000479858 SCV001581178 pathogenic not provided 2020-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1036*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748459670, ExAC 0.002%). This variant has been observed in individual(s) with Stickler syndrome type 1 (PMID: 16752401, 25809783). ClinVar contains an entry for this variant (Variation ID: 197503). Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). For these reasons, this variant has been classified as Pathogenic.

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