Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV001374929 | SCV001572217 | pathogenic | Neurodevelopmental disorder | 2020-02-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003603092 | SCV004509517 | pathogenic | Transposition of the great arteries, dextro-looped | 2023-07-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln691*) in the MED13L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MED13L are known to be pathogenic (PMID: 25712080, 25758992). This premature translational stop signal has been observed in individual(s) with MED13L-related intellectual disability (PMID: 29959045). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1064782). |