ClinVar Miner

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

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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 2020-09-25 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Stickler syndrome and Kniest dysplasia (PMID: 20179744, 26709265, 26626311). ClinVar contains an entry for this variant (Variation ID: 966427). Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). 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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