ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)

dbSNP: rs377079894
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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 RCV001362196 SCV001558200 likely benign not provided 2024-10-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531162 SCV004117942 uncertain significance COL2A1-related disorder 2023-08-12 criteria provided, single submitter clinical testing The COL2A1 c.3756C>A variant is predicted to result in the amino acid substitution p.Asp1252Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0015% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-48369230-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV001362196 SCV005191787 uncertain significance not provided criteria provided, single submitter not provided

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