ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) (rs1555166555)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522045 SCV000617521 pathogenic not provided 2021-04-12 criteria provided, single submitter clinical testing Not observed 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; This variant is associated with the following publications: (PMID: 20179744, 16752401, 18276201, 20513134)
Mendelics RCV000988825 SCV001138710 pathogenic Stickler syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000522045 SCV001410672 pathogenic not provided 2020-04-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg701*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant Stickler syndrome (PMID: 16752401, 20513134, 18276201). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 449397). 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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