ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1086G>A (p.Glu362=)

gnomAD frequency: 0.00006  dbSNP: rs200284501
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235840 SCV001099110 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171993 SCV001334918 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001171993 SCV001824447 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169469 SCV003861010 likely benign Cardiovascular phenotype 2023-03-03 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 RCV003960640 SCV004768289 likely benign COL1A2-related disorder 2020-02-20 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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