ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.195C>T (p.Asp65=)

gnomAD frequency: 0.00056  dbSNP: rs202210896
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238832 SCV005886632 benign not specified 2025-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725382 SCV004130677 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL2A1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725382 SCV001471977 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001114416 SCV001272296 benign Type II Collagenopathies 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001114415 SCV001272295 uncertain significance Stickler syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000725382 SCV001120834 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659384 SCV000781195 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000725382 SCV000729605 likely benign not provided 2020-12-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725382 SCV000336501 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535312 SCV004719861 likely benign COL2A1-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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