ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)

gnomAD frequency: 0.00004  dbSNP: rs751059559
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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 RCV000315398 SCV000468216 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000315398 SCV003473520 benign Primary ciliary dyskinesia 2023-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000315398 SCV004098464 uncertain significance Primary ciliary dyskinesia 2023-09-07 criteria provided, single submitter clinical testing The p.K4003M variant (also known as c.12008A>T), located in coding exon 74 of the DNAH11 gene, results from an A to T substitution at nucleotide position 12008. The lysine at codon 4003 is replaced by methionine, an amino acid with similar 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.

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