ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)

gnomAD frequency: 0.00004  dbSNP: rs527914224
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095111 SCV000453074 uncertain significance Primary ciliary dyskinesia 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000327201 SCV000624297 likely benign Primary ciliary dyskinesia 2024-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000327201 SCV004855664 uncertain significance Primary ciliary dyskinesia 2023-10-17 criteria provided, single submitter clinical testing The c.8273A>C (p.E2758A) alteration is located in exon 50 (coding exon 50) of the DNAH5 gene. This alteration results from a A to C substitution at nucleotide position 8273, causing the glutamic acid (E) at amino acid position 2758 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000327201 SCV001457541 uncertain significance Primary ciliary dyskinesia 2020-03-17 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.