ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3849C>A (p.Asn1283Lys) (rs199911681)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839516 SCV000981416 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000532278 SCV000627251 uncertain significance Osteogenesis imperfecta type I 2017-04-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1283 of the COL1A1 protein (p.Asn1283Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs199911681, ExAC 0.1%) but 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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