ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.432+5G>A

dbSNP: rs72656364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764609 SCV004569804 pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-11-10 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with autosomal dominant COL1A2-related conditions (PMID: 10694924, 31794058; Invitae). ClinVar contains an entry for this variant (Variation ID: 17269). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 9, but is expected to preserve the integrity of the reading-frame (PMID: 10694924). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018810 SCV000039093 pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 2020-12-10 no assertion criteria provided literature only

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