ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln)

gnomAD frequency: 0.00001  dbSNP: rs1360840874
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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 RCV001351458 SCV001545932 benign Primary ciliary dyskinesia 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001351458 SCV003567343 uncertain significance Primary ciliary dyskinesia 2021-08-16 criteria provided, single submitter clinical testing The c.11872A>C (p.K3958Q) alteration is located in exon 73 (coding exon 73) of the DNAH11 gene. This alteration results from a A to C substitution at nucleotide position 11872, causing the lysine (K) at amino acid position 3958 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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