ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser)

gnomAD frequency: 0.00018  dbSNP: rs200216579
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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 RCV000532813 SCV000624128 benign Primary ciliary dyskinesia 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000532813 SCV002630759 uncertain significance Primary ciliary dyskinesia 2023-10-10 criteria provided, single submitter clinical testing The c.4224G>T (p.R1408S) alteration is located in exon 23 (coding exon 23) of the DNAH11 gene. This alteration results from a G to T substitution at nucleotide position 4224, causing the arginine (R) at amino acid position 1408 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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