ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln)

dbSNP: rs59978698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250370 SCV000313066 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002401959 SCV002706164 uncertain significance Primary ciliary dyskinesia 2021-11-19 criteria provided, single submitter clinical testing The p.E511Q variant (also known as c.1531G>C), located in coding exon 10 of the CCDC40 gene, results from a G to C substitution at nucleotide position 1531. The glutamic acid at codon 511 is replaced by glutamine, 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.

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