ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.975A>T (p.Gly325=)

gnomAD frequency: 0.00340  dbSNP: rs148063325
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516594 SCV000612929 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV001087190 SCV000627362 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757103 SCV000885217 benign not provided 2023-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000757103 SCV000977996 benign not provided 2018-04-18 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.
Ambry Genetics RCV002383991 SCV002693434 likely benign Cardiovascular phenotype 2019-05-31 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.

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