ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3531+4T>C

gnomAD frequency: 0.00009  dbSNP: rs145251615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306247 SCV001495609 uncertain significance Osteogenesis imperfecta type I 2024-01-16 criteria provided, single submitter clinical testing This sequence change falls in intron 47 of the COL1A1 gene. It does not directly change the encoded amino acid sequence of the COL1A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs145251615, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COL1A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1008844). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002486194 SCV002786976 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 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034085 SCV005032173 uncertain significance Cardiovascular phenotype 2024-02-29 criteria provided, single submitter clinical testing The c.3531+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 47 in the COL1A1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this alteration remains unclear.

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