ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003604312 SCV004485461 pathogenic Transposition of the great arteries, dextro-looped 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu496*) 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).

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