ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3013A>T (p.Asn1005Tyr) (rs770975422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550903 SCV000624241 uncertain significance Primary ciliary dyskinesia 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 1005 of the DNAH5 protein (p.Asn1005Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is present in population databases (rs770975422, ExAC 0.03%). This variant has not been reported in the literature in individuals with a DNAH5-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on DNAH5 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197264 SCV001367901 uncertain significance Ciliary dyskinesia, primary, 3 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP4.
Nilou-Genome Lab RCV001197264 SCV001786729 uncertain significance Ciliary dyskinesia, primary, 3 2021-07-14 criteria provided, single submitter clinical testing

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