ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)

gnomAD frequency: 0.02714  dbSNP: rs1800215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439178 SCV000516451 benign not specified 2016-04-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000540621 SCV000627229 benign Osteogenesis imperfecta type I 2024-02-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224274 SCV003919817 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 2023-01-17 criteria provided, single submitter clinical testing This variant is present in gnomAD (Highest reported MAF: 5.4% [2240/41362], and in numerous homozygotes; https://gnomad.broadinstitute.org/variant/17-50188134-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID: 379433). In summary, this variant is classified as benign.

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