ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)

dbSNP: rs1560092712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694111 SCV000822540 uncertain significance Primary ciliary dyskinesia 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 117 of the CCDC39 protein (p.Asp117Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with primary ciliary dyskinesia (PMID: 30067075; Invitae). ClinVar contains an entry for this variant (Variation ID: 572671). 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 disrupt the consensus 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.
Yale Center for Mendelian Genomics, Yale University RCV000694111 SCV002106474 likely pathogenic Primary ciliary dyskinesia 2018-08-01 no assertion criteria provided literature only

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