ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8639A>G (p.His2880Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693213 SCV000821073 uncertain significance Orofaciodigital syndrome 6; Joubert syndrome 17 2018-01-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 2880 of the C5orf42 protein (p.His2880Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with C5orf42-related disease. 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 arginine 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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