ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.427C>T (p.Pro143Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798625 SCV000938250 uncertain significance Osteogenesis imperfecta type I 2018-10-08 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 143 of the COL1A1 protein (p.Pro143Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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: "Not available"; Align-GVGD: "Class C0"). 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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