ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr)

gnomAD frequency: 0.00327  dbSNP: rs141185078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249620 SCV000313057 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000529188 SCV000624377 benign Primary ciliary dyskinesia 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000529188 SCV002659024 uncertain significance Primary ciliary dyskinesia 2022-02-24 criteria provided, single submitter clinical testing The p.I407T variant (also known as c.1220T>C), located in coding exon 8 of the CCDC40 gene, results from a T to C substitution at nucleotide position 1220. The isoleucine at codon 407 is replaced by threonine, an amino acid with similar properties. 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 alteration remains unclear.

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