ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys)

gnomAD frequency: 0.00001  dbSNP: rs769457034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002022573 SCV002292498 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-10-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. This variant is present in population databases (rs769457034, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 41 of the COL1A2 protein (p.Arg41Cys). 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. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276981 SCV002564764 uncertain significance Osteogenesis imperfecta 2020-04-01 criteria provided, single submitter clinical testing

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