Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001321915 | SCV001512766 | benign | Primary ciliary dyskinesia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Institute Of Molecular Biology And Genetics, |
RCV001321915 | SCV004176749 | uncertain significance | Primary ciliary dyskinesia | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 2871 of the DNAH5 protein (p.Phe2871Leu). The c.8611T>C variant has a low population allele frequency (gnomAD Genomes, Version 3.1.2: ƒ = 0.0000657). Some in silico pathogenicity prediction tools, like EIGEN, MetaRNN, PROVEAN, FATHMM-MKL, Mutation assessor, predicted the c.8611T>C to be likely deleterious. ClinVar contains an entry for this variant (Variation ID:1022053): it was reported twice in PCD-patients, with conflicting interpretations of pathogenicity. The patient presented in our study carried the c.8611T>C in combination with another likely pathogenic variant in DNAH5 (c.2052+3G>T). 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. |
Natera, |
RCV001321915 | SCV002080840 | uncertain significance | Primary ciliary dyskinesia | 2020-02-13 | no assertion criteria provided | clinical testing |