ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.519del (p.Gly174fs)

dbSNP: rs1592235124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994907 SCV001148718 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000994907 SCV001791819 pathogenic not provided 2020-01-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Invitae RCV000994907 SCV003311152 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 806875). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly174Valfs*25) 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).

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