ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)

dbSNP: rs1555165335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857237 SCV002275765 pathogenic not provided 2023-08-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 438682). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the triple helix domain of COL2A1. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL2A1, variants affecting these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC). This variant is also known as G817-V822del6aa. This variant has been observed in individuals with autosomal dominant hypochondrogenesis (PMID: 10797431, 34529350). This variant is not present in population databases (gnomAD no frequency). This variant, c.3062_3079del, results in the deletion of 6 amino acid(s) of the COL2A1 protein (p.Pro1021_Gly1026del), but otherwise preserves the integrity of the reading frame.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505580 SCV000599839 likely pathogenic Achondrogenesis type II 2017-04-20 no assertion criteria provided clinical testing

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