ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4772C>T (p.Thr1591Met)

gnomAD frequency: 0.00001  dbSNP: rs778000913
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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 RCV001229715 SCV001402169 benign Primary ciliary dyskinesia 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001229715 SCV004088356 uncertain significance Primary ciliary dyskinesia 2023-08-20 criteria provided, single submitter clinical testing The c.4772C>T (p.T1591M) alteration is located in exon 27 (coding exon 27) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 4772, causing the threonine (T) at amino acid position 1591 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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