ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)

gnomAD frequency: 0.00005  dbSNP: rs758513686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286231 SCV000453122 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.
Ambry Genetics RCV002348104 SCV002647938 uncertain significance Primary ciliary dyskinesia 2019-09-20 criteria provided, single submitter clinical testing The p.A1809T variant (also known as c.5425G>A), located in coding exon 33 of the DNAH5 gene, results from a G to A substitution at nucleotide position 5425. The alanine at codon 1809 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002348104 SCV003276670 benign Primary ciliary dyskinesia 2024-01-16 criteria provided, single submitter clinical testing

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