ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2140G>A (p.Val714Met) (rs797045845)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194907 SCV000248388 uncertain significance not specified 2015-05-12 criteria provided, single submitter clinical testing
Invitae RCV000792869 SCV000932194 uncertain significance Joubert syndrome; Oral-facial-digital syndrome 2018-12-16 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 714 of the OFD1 protein (p.Val714Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with OFD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 211786). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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