Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000725468 | SCV000337157 | likely pathogenic | not provided | 2015-11-13 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000549203 | SCV000624510 | pathogenic | Primary ciliary dyskinesia | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln118*) in the DRC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DRC1 are known to be pathogenic (PMID: 23354437, 31960620). This variant is present in population databases (rs142371860, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 23354437). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 55840). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000049261 | SCV000893604 | pathogenic | Primary ciliary dyskinesia 21 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV000825030 | SCV000966227 | uncertain significance | not specified | 2018-03-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Gln118X ( NM145038.2 c.352C>T) variant in DRC1 has been previously reported in 2 homozygou s individuals with primary ciliary dyskinesia and segregated in 1 affected homoz ygous family member in 1 family (Wirschell 2013). Mutant studies and studies fro m patient cells with the p.Gln118X variant report an impact to protein function (Wirschell 2013). This variant has also been reported in ClinVar as likely patho genic (Variation ID#55840). It has been identified in 0.066% (83/126650) of Euro pean chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitut e.org; rs142371860). Although this variant has been seen in the general populati on, its frequency is low enough to be consistent with a recessive carrier freque ncy. This nonsense variant leads to a premature termination codon at position 11 8, which is predicted to lead to a truncated or absent protein. In summary, ther e is suspicion for a pathogenic role; however, the gene-disease association bet ween DRC1 is currently assessed at a moderate level. |
| Laboratory of Cell Biology, |
RCV002254519 | SCV002525500 | pathogenic | Primary ciliary dyskinesia; Primary ciliary dyskinesia 21 | criteria provided, single submitter | clinical testing | We analyzed the expression of DRC1 of a patient with this mutation and observed that mRNA was downregulated as well as its protein were also decreased. | |
| Gene |
RCV000725468 | SCV002549228 | pathogenic | not provided | 2022-06-02 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27996046, 23354437, 30487145, 12746204, 26582918, 34426522, 27535533) |
| OMIM | RCV000049261 | SCV000077514 | pathogenic | Primary ciliary dyskinesia 21 | 2013-03-01 | no assertion criteria provided | literature only |