ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.1801G>A (p.Glu601Lys)

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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 RCV002928234 SCV003266803 uncertain significance Primary ciliary dyskinesia 23 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 601 of the ARMC4 protein (p.Glu601Lys). This variant is present in population databases (rs777609514, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ARMC4-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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002928234 SCV005876992 uncertain significance Primary ciliary dyskinesia 23 2024-07-08 criteria provided, single submitter clinical testing The ODAD2 c.1801G>A; p.Glu601Lys variant (rs777609514), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 2057764). This variant is found in the non-Finnish European population with an allele frequency of 0.009% (10/113,300 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is neutral (REVEL: 0.039). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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