ClinVar Miner

Submissions for variant NM_001364171.2(ODAD1):c.276C>G (p.Asn92Lys)

gnomAD frequency: 0.00006  dbSNP: rs753389945
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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 RCV001215193 SCV001386923 uncertain significance Primary ciliary dyskinesia 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 55 of the CCDC114 protein (p.Asn55Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs753389945, ExAC 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV001215193 SCV004994519 uncertain significance Primary ciliary dyskinesia 2023-12-21 criteria provided, single submitter clinical testing The c.165C>G (p.N55K) alteration is located in exon 3 (coding exon 2) of the CCDC114 gene. This alteration results from a C to G substitution at nucleotide position 165, causing the asparagine (N) at amino acid position 55 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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