Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001937270 | SCV002131497 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser269Phefs*36) 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 0.007%). 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: 1363964). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003475129 | SCV004194938 | likely pathogenic | Bardet-Biedl syndrome 13 | 2023-07-13 | criteria provided, single submitter | clinical testing |