ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)

dbSNP: rs2115969692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922511 SCV002167954 likely pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1324*) in the COL1A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the COL1A2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal dominant osteogenesis imperfecta (PMID: 25146735; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1398213). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291005 SCV002583330 likely pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 2021-11-02 no assertion criteria provided clinical testing

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