ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys)

gnomAD frequency: 0.00003  dbSNP: rs1341595487
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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 RCV001982255 SCV002214330 uncertain significance Osteogenesis imperfecta type I 2021-09-03 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. 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 expected to disrupt COL1A1 protein function. This variant has not been reported in the literature in individuals affected with COL1A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 1356 of the COL1A1 protein (p.Arg1356Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
Baylor Genetics RCV001982255 SCV004040729 uncertain significance Osteogenesis imperfecta type I 2023-07-01 criteria provided, single submitter clinical testing

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