Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998535 | SCV001154661 | likely pathogenic | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000998535 | SCV001591415 | pathogenic | not provided | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys456Glufs*11) in the MAK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAK are known to be pathogenic (PMID: 21148103, 21825139, 24938718, 29781741). This variant has not been reported in the literature in individuals affected with MAK-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 809877). |