ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) (rs1592202517)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853283 SCV000996117 pathogenic Stickler syndrome type 1 2018-03-14 criteria provided, single submitter clinical testing This frameshifting variant is predicted to generate a premature termination codon and have a loss-of-function effect. This variant has neither been observed in the ExAC or gnomAD population databases nor reported in the published literature to our knowledge. Based on the available evidence, this variant is classified as pathogenic.

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