ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1138A>C (p.Thr380Pro)

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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 RCV003538938 SCV004282689 benign Primary ciliary dyskinesia 2024-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003538938 SCV005577746 uncertain significance Primary ciliary dyskinesia 2024-10-01 criteria provided, single submitter clinical testing The c.1138A>C (p.T380P) alteration is located in exon 6 (coding exon 6) of the DNAH11 gene. This alteration results from a A to C substitution at nucleotide position 1138, causing the threonine (T) at amino acid position 380 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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