ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)

gnomAD frequency: 0.00076  dbSNP: rs200158571
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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 RCV000525282 SCV000660317 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3216 of the DNAH1 protein (p.Leu3216Val). This variant is present in population databases (rs200158571, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 478516). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNAH1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001255314 SCV001431762 uncertain significance Primary ciliary dyskinesia 2019-04-18 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535571 SCV001749560 not provided Oligosynaptic infertility; Ciliary dyskinesia, primary, 37 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-08-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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