ClinVar Miner

Submissions for variant NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)

gnomAD frequency: 0.00005  dbSNP: rs137875815
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237786 SCV002511038 uncertain significance Primary ciliary dyskinesia 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 89 of the CCDC114 protein (p.Thr89Met). This variant is present in population databases (rs137875815, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with CCDC114-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003146525 SCV003829319 uncertain significance Primary ciliary dyskinesia 20 2022-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002237786 SCV003853734 likely benign Primary ciliary dyskinesia 2023-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV003443010 SCV004170664 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV003443010 SCV005194714 uncertain significance not provided criteria provided, single submitter not provided

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