ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1036-3T>C

gnomAD frequency: 0.00007  dbSNP: rs370275593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659373 SCV000781184 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000842274 SCV000984280 likely benign not provided 2018-04-27 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.
Invitae RCV002235526 SCV001397904 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. This sequence change falls in intron 19 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370275593, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 547238). 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.
GenomeConnect - Invitae Patient Insights Network RCV001535468 SCV001749390 not provided Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-01-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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