ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.-81G>A

gnomAD frequency: 0.00008  dbSNP: rs201101258
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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 RCV000284590 SCV000550915 uncertain significance Primary ciliary dyskinesia 2022-07-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 330221). This variant has not been reported in the literature in individuals affected with DNAAF3-related conditions. This variant is present in population databases (rs201101258, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 17 of the DNAAF3 protein (p.Gly17Asp).
Ambry Genetics RCV000284590 SCV002641934 uncertain significance Primary ciliary dyskinesia 2022-08-22 criteria provided, single submitter clinical testing The p.G17D variant (also known as c.50G>A), located in coding exon 1 of the DNAAF3 gene, results from a G to A substitution at nucleotide position 50. The glycine at codon 17 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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