ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.334-5C>A (rs115997082)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497393 SCV000589932 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL1A1 gene. The c.334-5 C>A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 0.2-0.3% alleles from individuals of African ancestry in large population cohorts, indicating it may be a rare benign variant in this population (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.334-5 C>A variant occurs at a nucleotide position that is not conserved across species. Additionally, in silico splice prediction algorithms are inconclusive as to whether or not this variant damages the splice acceptor site in intron 3. While other splice site variants in the COL1A1 gene have been reported in HGMD in association with COL1A1-related disorders (Stenson et al., 2014), in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Illumina Clinical Services Laboratory,Illumina RCV000333833 SCV000404206 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362772 SCV000404207 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271447 SCV000404208 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530006 SCV000627234 benign Osteogenesis imperfecta type I 2017-05-17 criteria provided, single submitter clinical testing

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