ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)

gnomAD frequency: 0.00010  dbSNP: rs201293301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542026 SCV000624395 uncertain significance Primary ciliary dyskinesia 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 999 of the CCDC40 protein (p.Arg999His). This variant is present in population databases (rs201293301, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. ClinVar contains an entry for this variant (Variation ID: 454887). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000542026 SCV001431592 uncertain significance Primary ciliary dyskinesia 2019-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000542026 SCV002746425 uncertain significance Primary ciliary dyskinesia 2021-09-07 criteria provided, single submitter clinical testing The p.R999H variant (also known as c.2996G>A), located in coding exon 18 of the CCDC40 gene, results from a G to A substitution at nucleotide position 2996. The arginine at codon 999 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481752 SCV002778182 uncertain significance Primary ciliary dyskinesia 15 2022-03-03 criteria provided, single submitter clinical testing

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