ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)

gnomAD frequency: 0.00001  dbSNP: rs972825197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663539 SCV001880392 uncertain significance not provided 2021-03-11 criteria provided, single submitter clinical testing
GeneDx RCV001663539 SCV002000061 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002032651 SCV002186573 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 387 of the COL1A2 protein (p.Ala387Pro). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with hypermobility (PMID: 27011056). ClinVar contains an entry for this variant (Variation ID: 1256197). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL1A2 protein function with a negative predictive value of 95%. 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.

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