Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000279094 | SCV000468127 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000279094 | SCV000561956 | likely benign | Primary ciliary dyskinesia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000279094 | SCV002654371 | likely benign | Primary ciliary dyskinesia | 2018-03-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586692 | SCV005076745 | uncertain significance | not specified | 2024-04-10 | criteria provided, single submitter | clinical testing | Variant summary: DNAH11 c.6274-5T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00036 in 239168 control chromosomes (gnomAD). To our knowledge, no occurrence of c.6274-5T>C in individuals affected with Primary Ciliary Dyskinesia 7 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 359641). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Prevention |
RCV004737456 | SCV005351941 | likely benign | DNAH11-related disorder | 2024-09-27 | 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). |