ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2355T>A (p.Gly785=)

gnomAD frequency: 0.00004  dbSNP: rs137937544
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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 RCV001488395 SCV001692910 likely benign Osteogenesis imperfecta type I 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001587433 SCV001822785 likely benign not provided 2020-06-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002449288 SCV002733635 likely benign Cardiovascular phenotype 2019-10-28 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.
PreventionGenetics, part of Exact Sciences RCV004550247 SCV004765731 likely benign COL1A1-related disorder 2019-03-29 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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