ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp)

gnomAD frequency: 0.00013  dbSNP: rs369704964
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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 RCV000226575 SCV000287016 benign Primary ciliary dyskinesia 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000226575 SCV002656110 uncertain significance Primary ciliary dyskinesia 2017-10-30 criteria provided, single submitter clinical testing The p.G1998D variant (also known as c.5993G>A), located in coding exon 35 of the DNAH11 gene, results from a G to A substitution at nucleotide position 5993. The glycine at codon 1998 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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