ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met)

gnomAD frequency: 0.00039  dbSNP: rs202034810
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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 RCV000629318 SCV000750253 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629318 SCV002646937 uncertain significance Primary ciliary dyskinesia 2018-08-17 criteria provided, single submitter clinical testing The p.T1713M variant (also known as c.5138C>T), located in coding exon 30 of the DNAH11 gene, results from a C to T substitution at nucleotide position 5138. The threonine at codon 1713 is replaced by methionine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004544819 SCV004787504 likely benign DNAH11-related disorder 2021-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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