ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3895T>A (p.Cys1299Ser) (rs1567752383)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693453 SCV000821324 uncertain significance Osteogenesis imperfecta type I 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 1299 of the COL1A1 protein (p.Cys1299Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL1A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The observation of one or more missense substitutions at this codon (p.Cys1299Arg and p. Cys1299Trp) in affected individuals suggests that this may be a clinically significant residue (PMID: 26177859,  26371943, 11432962, 27509835). 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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