ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr)

gnomAD frequency: 0.00003  dbSNP: rs371445823
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000324 SCV002257726 benign not provided 2024-10-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276972 SCV002566378 uncertain significance Connective tissue disorder 2020-04-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002000324 SCV005191791 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004734378 SCV005349824 uncertain significance COL2A1-related disorder 2024-06-03 no assertion criteria provided clinical testing The COL2A1 c.580G>A variant is predicted to result in the amino acid substitution p.Ala194Thr. This variant was reported in an individual with short stature without skeletal anomalies (Chen et al. 2022. PubMed ID: 35250876). This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. 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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