Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410219 | SCV000487707 | likely pathogenic | Meckel syndrome, type 1 | 2016-11-02 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000410881 | SCV000487708 | likely pathogenic | Bardet-Biedl syndrome 13 | 2016-11-02 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000412320 | SCV000487709 | likely pathogenic | Joubert syndrome 28 | 2016-11-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001213563 | SCV001385199 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro465Glnfs*9) in the MKS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 19466712, 24886560, 26490104). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371771). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002502436 | SCV002809858 | likely pathogenic | Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 | 2021-11-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000410881 | SCV004194939 | likely pathogenic | Bardet-Biedl syndrome 13 | 2023-07-08 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000410219 | SCV004813146 | pathogenic | Meckel syndrome, type 1 | 2024-02-05 | criteria provided, single submitter | clinical testing | Variant summary: MKS1 c.1394delC (p.Pro465GlnfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 249548 control chromosomes. To our knowledge, no occurrence of c.1394delC in individuals affected with Meckel Syndrome Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 371771). Based on the evidence outlined above, the variant was classified as pathogenic. |