ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2673G>A (p.Val891=)

dbSNP: rs1114167364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001856923 SCV002267628 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2020-11-06 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of autosomal dominant osteogenesis imperfecta (Invitae). ClinVar contains an entry for this variant (Variation ID: 427739). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 891 of the COL1A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL1A2 protein. This variant also falls at the last nucleotide of exon 41, which is part of the consensus splice site for this exon.
Institute of Human Genetics, Cologne University RCV000490639 SCV000538199 likely pathogenic Osteogenesis imperfecta, perinatal lethal no assertion criteria provided clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000490639 SCV004099305 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2023-10-30 no assertion criteria provided clinical testing

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