ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)

gnomAD frequency: 0.00020  dbSNP: rs377219039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862632 SCV001003160 likely benign Primary ciliary dyskinesia 2024-01-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122217 SCV001280919 uncertain significance Primary ciliary dyskinesia 15 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV000862632 SCV002729736 uncertain significance Primary ciliary dyskinesia 2016-08-16 criteria provided, single submitter clinical testing The p.E743D variant (also known as c.2229G>C), located in coding exon 13 of the CCDC40 gene, results from a G to C substitution at nucleotide position 2229. The glutamic acid at codon 743 is replaced by aspartic acid, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs377219039. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.05% (6/12374) total alleles studied and 0.07% (6/8350) European American alleles. This amino acid position is not well conserved in available vertebrate species. 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 variant remains unclear.

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