ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002287999 SCV002578507 uncertain significance not provided 2022-04-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in a patient with a second DNAH11 missense variant with primary ciliary dyskinesia in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Nakhleh et al., 2012); This variant is associated with the following publications: (PMID: 22499950)
Ambry Genetics RCV002373079 SCV002686401 uncertain significance Primary ciliary dyskinesia 2014-08-01 criteria provided, single submitter clinical testing The p.E3133K variant (also known as c.9397G>A), located in coding exon 57 of the DNAH11 gene, results from a G to A substitution at nucleotide position 9397. The glutamic acid at codon 3133 is replaced by lysine, an amino acid with similar properties. This alteration was first reported in an individual who had a history of newborn respiratory distress, otits media, recurrent pneumonia, bronchiectasis and congenital heart disease; a second alteration in DNAH11 was also identfied (p.Q1507P), however, the phase (cis/trans) of the alterations is not known (Nakhleh Net al. Circulation. 2012;125(18):2232-42). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6041 samples (12082 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging but tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002373079 SCV003278201 benign Primary ciliary dyskinesia 2024-01-19 criteria provided, single submitter clinical testing

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