ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)

dbSNP: rs1938958532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241102 SCV001414096 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala895Serfs*49) 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 premature translational stop signal has been observed in individual(s) with Stickler syndrome and Kniest dysplasia (PMID: 20179744, 26626311, 26709265). ClinVar contains an entry for this variant (Variation ID: 966427). For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV001263467 SCV001441541 pathogenic Stickler syndrome type 1 2020-11-03 criteria provided, single submitter clinical testing This COL2A1 variant is absent from a large population database and has an entry in ClinVar. It has been reported in individuals affected with Stickler syndrome type I and Kniest dysplasia. This variant was detected in the paternal sample used for analysis. The reduced alternate allele fraction and suggestion of mild COL2A1-associated phenotypes suggest this variant is mosaic in the patient father. This frameshift variant occurs in exon 40 of 54 likely leading to nonsense-mediated decay and lack of protein production. We consider c.2678dupC to be pathogenic.

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