ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3688G>A (p.Glu1230Lys) (rs376564562)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539210 SCV000627249 uncertain significance Osteogenesis imperfecta type I 2017-01-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1230 of the COL1A1 protein (p.Glu1230Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL1A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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