ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1404+4A>C

gnomAD frequency: 0.00002  dbSNP: rs369907691
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233395 SCV000832140 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2022-05-13 criteria provided, single submitter clinical testing This sequence change falls in intron 24 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 (rs369907691, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 579862). 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.
GeneDx RCV001786412 SCV002029050 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 579862; Landrum et al., 2016)
Ambry Genetics RCV002388324 SCV002696787 uncertain significance Cardiovascular phenotype 2021-06-25 criteria provided, single submitter clinical testing The c.1404+4A>C intronic variant results from an A to C substitution 4 nucleotides after coding exon 24 in the COL1A2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003333100 SCV004041533 uncertain significance Osteogenesis imperfecta with normal sclerae, dominant form 2023-05-11 criteria provided, single submitter clinical testing

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