ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)

gnomAD frequency: 0.00006  dbSNP: rs141651575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689176 SCV000816816 benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000689176 SCV002703157 uncertain significance Primary ciliary dyskinesia 2016-04-13 criteria provided, single submitter clinical testing The p.E538K variant (also known as c.1612G>A), located in coding exon 12 of the DNAH5 gene, results from a G to A substitution at nucleotide position 1612. The glutamic acid at codon 538 is replaced by lysine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs141651575. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.02% (2/13004) total alleles studied, having been observed in 0.02% (1/4404) African American alleles and 0.01% (1/8600) European American alleles. This amino acid position is highly conserved in available vertebrate species. 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.
Natera, Inc. RCV000689176 SCV001462541 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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