ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6131G>A (p.Arg2044Gln)

gnomAD frequency: 0.00006  dbSNP: rs372051486
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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 RCV000533413 SCV000624151 benign Primary ciliary dyskinesia 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000533413 SCV003697648 uncertain significance Primary ciliary dyskinesia 2021-07-28 criteria provided, single submitter clinical testing The c.6131G>A (p.R2044Q) alteration is located in exon 36 (coding exon 36) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 6131, causing the arginine (R) at amino acid position 2044 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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