ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)

dbSNP: rs751299130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422156 SCV000530770 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing The P459T variant in the COL1A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P459T variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P459T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P459T as a variant of uncertain significance.
Invitae RCV000631495 SCV000752577 likely benign Osteogenesis imperfecta type I 2023-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765371 SCV000896636 uncertain significance Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 2018-10-31 criteria provided, single submitter clinical testing

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