ClinVar Miner

Submissions for variant NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His)

dbSNP: rs760358814
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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 RCV000629395 SCV000750333 uncertain significance Primary ciliary dyskinesia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 560 of the DNAAF5 protein (p.Arg560His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs760358814, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DNAAF5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001335862 SCV001529111 uncertain significance Primary ciliary dyskinesia 18 2018-06-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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