ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)

gnomAD frequency: 0.00021  dbSNP: rs146206917
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810557 SCV001474170 likely benign not provided 2022-03-11 criteria provided, single submitter clinical testing
Invitae RCV002241662 SCV001708981 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379978 SCV002689177 likely benign Cardiovascular phenotype 2020-03-17 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 RCV003938600 SCV004749433 likely benign COL1A2-related disorder 2023-02-15 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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