ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=)

gnomAD frequency: 0.00004  dbSNP: rs936707370
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235498 SCV001055944 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2019-02-13 criteria provided, single submitter clinical testing
GeneDx RCV001585866 SCV001819213 likely benign not provided 2019-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454086 SCV002614631 likely benign Cardiovascular phenotype 2021-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003968397 SCV004782009 likely benign COL1A2-related condition 2019-08-13 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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