ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2382T>A (p.Pro794=)

gnomAD frequency: 0.00012  dbSNP: rs373352689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892770 SCV002154733 benign not provided 2022-09-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538576 SCV004109505 uncertain significance COL2A1-related disorder 2022-12-05 criteria provided, single submitter clinical testing The COL2A1 c.2382T>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to enhance a cryptic splice site based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-48375586-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690156 SCV005185409 likely benign not specified 2024-05-07 criteria provided, single submitter clinical testing

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