ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr)

gnomAD frequency: 0.00009  dbSNP: rs772333047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204234 SCV001375433 benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001204234 SCV002691890 uncertain significance Primary ciliary dyskinesia 2015-02-06 criteria provided, single submitter clinical testing The p.A45T variant (also known as c.133G>A), located in coding exon 1 of the DNAH11 gene, results from a G to A substitution at nucleotide position 133. The alanine at codon 45 is replaced by threonine, an amino acid with similar properties. 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.; however this position was not covered in the ESP. This amino acid position is well 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 variant remains unclear

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