ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met)

gnomAD frequency: 0.00002  dbSNP: rs200824684
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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 RCV000697103 SCV000825695 benign Primary ciliary dyskinesia 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000697103 SCV003867170 uncertain significance Primary ciliary dyskinesia 2022-12-06 criteria provided, single submitter clinical testing The p.T352M variant (also known as c.1055C>T), located in coding exon 6 of the DNAH11 gene, results from a C to T substitution at nucleotide position 1055. The threonine at codon 352 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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