ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met)

gnomAD frequency: 0.00011  dbSNP: rs374549012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687277 SCV000814836 benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000687277 SCV004858248 uncertain significance Primary ciliary dyskinesia 2023-10-13 criteria provided, single submitter clinical testing The c.10637C>T (p.T3546M) alteration is located in exon 65 (coding exon 65) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 10637, causing the threonine (T) at amino acid position 3546 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004588107 SCV005079732 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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