Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000821651 | SCV000962420 | pathogenic | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln533*) in the MED17 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MED17 are known to be pathogenic (PMID: 20950787, 26004231, 30345598). This variant is present in population databases (rs752341132, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MED17-related conditions. ClinVar contains an entry for this variant (Variation ID: 663716). For these reasons, this variant has been classified as Pathogenic. |
Centogene AG - |
RCV001809841 | SCV002059532 | likely pathogenic | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 2020-05-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001809841 | SCV003810923 | uncertain significance | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 2019-04-23 | criteria provided, single submitter | clinical testing |