ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile)

gnomAD frequency: 0.00004  dbSNP: rs755159452
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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 RCV000251033 SCV000313106 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002328746 SCV002633969 uncertain significance Primary ciliary dyskinesia 2022-02-17 criteria provided, single submitter clinical testing The p.T157I variant (also known as c.470C>T), located in coding exon 3 of the CCDC40 gene, results from a C to T substitution at nucleotide position 470. The threonine at codon 157 is replaced by isoleucine, an amino acid with 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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