ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)

gnomAD frequency: 0.00043  dbSNP: rs374351807
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272871 SCV000468118 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000272871 SCV000551748 benign Primary ciliary dyskinesia 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764702 SCV000895836 uncertain significance Primary ciliary dyskinesia 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002264931 SCV002547155 uncertain significance not provided 2022-01-07 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 with a DNAH11-related disease to our knowledge; This variant is associated with the following publications: (PMID: 33111339)
Ambry Genetics RCV000272871 SCV002651590 uncertain significance Primary ciliary dyskinesia 2021-12-23 criteria provided, single submitter clinical testing The p.T1840I variant (also known as c.5519C>T), located in coding exon 32 of the DNAH11 gene, results from a C to T substitution at nucleotide position 5519. The threonine at codon 1840 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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