ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) (rs148720124)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001030822 SCV000218830 benign Primary ciliary dyskinesia 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218415 SCV000271691 uncertain significance not specified 2015-06-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu2666Asp va riant in DNAH5 has been reported in 1 heterozygous Caucasian individual with iso lated asthenozoospermia (Zuccarello 2008). It has also been identified in 0.2% ( 115/66240) of European chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://; dbSNP rs148720124). Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, while the clinical significance of the p.Glu2666As p variant is uncertain, its frequency suggests that it is more likely to be beni gn.
GeneDx RCV000766289 SCV000589412 uncertain significance not provided 2016-05-13 criteria provided, single submitter clinical testing The E2666D variant in the DNAH5 gene has been reported previously in the heterozygous state in one individual with idiopathic, non-syndromic reduced sperm motility (Zuccarello et al., 2008). While not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports E2666D was observed in 22/8600 (0.25%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The E2666D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E2666D as a variant of uncertain significance.
Counsyl RCV000665929 SCV000790140 uncertain significance Ciliary dyskinesia, primary, 3 2017-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665929 SCV001313211 uncertain significance Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001030822 SCV001457545 likely benign Primary ciliary dyskinesia 2020-06-09 no assertion criteria provided clinical testing

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