ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) (rs72656307)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631466 SCV000752546 uncertain significance Osteogenesis imperfecta type I 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1093 of the COL1A1 protein (p.Arg1093Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs72656307, ExAC 0.01%). This variant has been reported in an individual affected with multiple arterial dissections and osteopenia with wrist fractures (PMID: 17211858). ClinVar contains an entry for this variant (Variation ID: 161457). Experimental studies in patient fibroblasts have shown that this missense change leads to disulfide bonding between alpha-collagen chains due to the creation of a cysteine (PMID: 17211858). 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.
Science for Life laboratory, Karolinska Institutet RCV000148991 SCV000088633 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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