ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.945C>T (p.Pro315=)

gnomAD frequency: 0.00024  dbSNP: rs147058179
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Total submissions: 7
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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 RCV000029615 SCV000052267 likely benign Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
GeneDx RCV001575964 SCV001803059 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Invitae RCV002054489 SCV002333289 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276581 SCV002565598 uncertain significance Ehlers-Danlos syndrome 2019-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371784 SCV002687197 likely benign Cardiovascular phenotype 2019-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001575964 SCV004565269 benign not provided 2023-03-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914866 SCV004737351 likely benign COL1A2-related disorder 2019-05-23 criteria provided, single submitter 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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