ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg)

gnomAD frequency: 0.00004  dbSNP: rs367643097
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815235 SCV000955684 likely benign Osteogenesis imperfecta type I 2023-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028845 SCV005032112 uncertain significance Cardiovascular phenotype 2023-10-17 criteria provided, single submitter clinical testing The p.Q42R variant (also known as c.125A>G), located in coding exon 2 of the COL1A1 gene, results from an A to G substitution at nucleotide position 125. The glutamine at codon 42 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693361 SCV005192962 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV004693361 SCV005327284 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV005021240 SCV005649561 uncertain significance Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2024-01-02 criteria provided, single submitter clinical testing

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