ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met)

gnomAD frequency: 0.00004  dbSNP: rs199642249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227411 SCV001399770 likely benign not provided 2024-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545132 SCV004795520 uncertain significance COL2A1-related disorder 2023-12-19 no assertion criteria provided clinical testing The COL2A1 c.3064G>A variant is predicted to result in the amino acid substitution p.Val1022Met. This variant was reported in an individual with prostate cancer (Table S7 in Liang et al. 2022. PubMed ID: 36095024). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/954877/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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