ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val)

gnomAD frequency: 0.00001  dbSNP: rs374337192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529969 SCV000624374 uncertain significance Primary ciliary dyskinesia 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 344 of the CCDC40 protein (p.Leu344Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs374337192, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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