ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2187+6T>A

dbSNP: rs794727585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177857 SCV000229806 uncertain significance not provided 2015-01-07 criteria provided, single submitter clinical testing
Invitae RCV001852202 SCV002182195 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2022-09-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 196964). 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. 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 may disrupt the consensus splice site. This variant has been observed in individual(s) with clinical features of osteogenesis imperfect (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 36 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.

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