ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.610-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003123311 SCV003799114 likely pathogenic Spondyloepiphyseal dysplasia congenita 2022-10-12 criteria provided, single submitter clinical testing PM2, PP3_Strong
Labcorp Genetics (formerly Invitae), Labcorp RCV005099260 SCV005839665 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the COL2A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of autosomal dominant Stickler syndrome (internal data). ClinVar contains an entry for this variant (Variation ID: 2429070). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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