ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8336T>C (p.Leu2779Pro)

gnomAD frequency: 0.00005  dbSNP: rs770508431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040225 SCV001203786 benign Primary ciliary dyskinesia 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551467 SCV003708922 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.8336T>C (p.L2779P) alteration is located in exon 51 (coding exon 51) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 8336, causing the leucine (L) at amino acid position 2779 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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