Submissions for variant NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met)

gnomAD frequency: 0.00010  dbSNP: rs368578923

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	RCV001255301	SCV001431741	uncertain significance	Primary ciliary dyskinesia	2019-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV001255301	SCV002407061	likely benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001255301	SCV002742339	uncertain significance	Primary ciliary dyskinesia	2018-02-20	criteria provided, single submitter	clinical testing	The p.V834M variant (also known as c.2500G>A), located in coding exon 14 of the DNAH11 gene, results from a G to A substitution at nucleotide position 2500. The valine at codon 834 is replaced by methionine, an amino acid with highly 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV003481038	SCV004223997	uncertain significance	not provided	2023-02-23	criteria provided, single submitter	clinical testing	BP4