ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu)

dbSNP: rs377637698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001925070 SCV002171121 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 50 of the COL1A2 protein (p.Pro50Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

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