ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala)

gnomAD frequency: 0.00001  dbSNP: rs760795257
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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 RCV001322552 SCV001513428 benign Primary ciliary dyskinesia 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001322552 SCV002617894 uncertain significance Primary ciliary dyskinesia 2016-09-15 criteria provided, single submitter clinical testing The p.V3820A variant (also known as c.11459T>C), located in coding exon 70 of the DNAH11 gene, results from a T to C substitution at nucleotide position 11459. The valine at codon 3820 is replaced by alanine, 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. In the ESP, this variant was not observed in 5962 samples (11924 alleles) with coverage at this position. 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 alteration remains unclear.

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