ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.104-441G>T

gnomAD frequency: 0.13897  dbSNP: rs1800012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001484 SCV001158758 benign not specified 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517237 SCV001725703 benign Osteogenesis imperfecta type I 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497319 SCV002813137 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 2022-05-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710233 SCV005249998 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001001484 SCV005726305 benign not specified 2024-11-15 criteria provided, single submitter clinical testing Variant summary: COL1A1 c.104-441G>T, also reported as rs1800012, is located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.14 in 152102 control chromosomes in the gnomAD database, including 1672 homozygotes. The observed variant frequency is approximately 4865.67 fold of the estimated maximal expected allele frequency for a pathogenic variant in COL1A1 causing Osteogenesis Imperfecta phenotype (2.8e-05). To our knowledge, no occurrence of c.104-441G>T in individuals affected with Osteogenesis Imperfecta and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 811535). Based on the evidence outlined above, the variant was classified as benign.

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