ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)

gnomAD frequency: 0.00011  dbSNP: rs373365959
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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 RCV000378405 SCV000468083 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000378405 SCV002614479 uncertain significance Primary ciliary dyskinesia 2022-02-17 criteria provided, single submitter clinical testing The p.D1141V variant (also known as c.3422A>T), located in coding exon 17 of the DNAH11 gene, results from an A to T substitution at nucleotide position 3422. The aspartic acid at codon 1141 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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 RCV000378405 SCV003445028 benign Primary ciliary dyskinesia 2023-10-15 criteria provided, single submitter clinical testing

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