ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) (rs1434279534)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687032 SCV000814582 uncertain significance Osteogenesis imperfecta type I 2018-04-16 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 949 of the COL1A1 protein (p.Pro949Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
GenomeConnect, ClinGen RCV000844903 SCV000986709 not provided Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/15/2018 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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