ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.491del (p.Pro164fs)

dbSNP: rs1592235241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850370 SCV000992554 pathogenic Stickler syndrome type 1 2019-04-24 criteria provided, single submitter research ACMG codes: PVS1,PS2, PM2
Invitae RCV001056922 SCV001221388 pathogenic not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro164Leufs*35) 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 variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 689620). For these reasons, this variant has been classified as Pathogenic.

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