ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)

gnomAD frequency: 0.00001  dbSNP: rs547506739
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002237182 SCV001654234 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001581134 SCV001818337 likely benign not provided 2020-04-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276738 SCV002565553 uncertain significance Ehlers-Danlos syndrome 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439063 SCV002747198 likely benign Cardiovascular phenotype 2019-08-10 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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