ClinVar Miner

Submissions for variant NM_021147.5(CCNO):c.563A>G (p.Lys188Arg)

dbSNP: rs1554019966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629400 SCV000750338 likely pathogenic Primary ciliary dyskinesia 2017-09-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 188 of the CCNO protein (p.Lys188Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been found in combination with another pathogenic CCNO variant in a single family affected with primary ciliary dyskinesia (Invitae). 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 and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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