ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) (rs140561107)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196961 SCV000254787 uncertain significance Joubert syndrome; Oral-facial-digital syndrome 2015-03-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 467 of the OFD1 protein (p.Arg467Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant has not been published in the literature and is not present in population databases. 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 is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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