ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr)

gnomAD frequency: 0.00002  dbSNP: rs375401215
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839296 SCV000981191 likely benign not provided 2018-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002234380 SCV001691066 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169067 SCV003861006 likely benign Cardiovascular phenotype 2022-12-29 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 RCV003975354 SCV004790091 likely benign COL1A2-related disorder 2020-08-07 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000839296 SCV001740576 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000839296 SCV001797718 likely benign not provided no assertion criteria provided clinical testing

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