ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)

gnomAD frequency: 0.00432  dbSNP: rs116794104
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085656 SCV000627164 benign Osteogenesis imperfecta type I 2024-01-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593224 SCV000704118 benign not specified 2016-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000593224 SCV000730526 benign not specified 2017-08-28 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.
Athena Diagnostics RCV000710756 SCV000841056 benign not provided 2017-09-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710756 SCV000883617 benign not provided 2017-10-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279325 SCV002565120 likely benign Osteogenesis imperfecta 2021-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330826 SCV002627419 benign Cardiovascular phenotype 2019-06-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002497060 SCV002810021 likely benign 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 2022-04-05 criteria provided, single submitter clinical testing

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