ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=)

gnomAD frequency: 0.00245  dbSNP: rs144134990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541457 SCV000627266 benign Osteogenesis imperfecta type I 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000610008 SCV000729129 benign not specified 2017-05-22 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 RCV002330827 SCV002630807 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736804 SCV004563286 benign not provided 2023-03-15 criteria provided, single submitter clinical testing

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