ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)

dbSNP: rs151080414
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150462 SCV000197648 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Asp4523Glu in exon 78 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (15/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs151080414).
Illumina Laboratory Services, Illumina RCV001094952 SCV000452929 uncertain significance Primary ciliary dyskinesia 3 2018-01-13 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 RCV000372628 SCV001000885 likely benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001094952 SCV001529063 uncertain significance Primary ciliary dyskinesia 3 2018-05-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001094952 SCV001810401 uncertain significance Primary ciliary dyskinesia 3 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000372628 SCV002689298 likely benign Primary ciliary dyskinesia 2017-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001094952 SCV003831743 uncertain significance Primary ciliary dyskinesia 3 2021-02-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000372628 SCV001458344 uncertain significance Primary ciliary dyskinesia 2020-01-17 no assertion criteria provided clinical testing

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