ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1353T>A (p.Gly451=)

gnomAD frequency: 0.00017  dbSNP: rs545459178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277773 SCV002564768 likely benign Osteogenesis imperfecta 2021-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382494 SCV002689220 likely benign Cardiovascular phenotype 2022-03-03 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.
Invitae RCV003107992 SCV003780460 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2022-05-16 criteria provided, single submitter clinical testing

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