ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.4178C>T (p.Ser1393Phe) (rs774210351)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547370 SCV000627261 uncertain significance Osteogenesis imperfecta type I 2017-11-22 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1393 of the COL1A1 protein (p.Ser1393Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs774210351, ExAC 0.002%). 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: "Probably Damaging"; 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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