ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter)

dbSNP: rs1565995034
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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 RCV000694349 SCV000822791 pathogenic Transposition of the great arteries, dextro-looped 2017-08-12 criteria provided, single submitter clinical testing Loss-of-function variants in MED13L are known to be pathogenic (PMID: 23403903). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp1359*) in the MED13L gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MED13L-related disease, however, a different variant (c.4076G>A) giving rise to the same protein effect observed here (p.Trp1359*) has been reported in an individual affected with autism spectrum disorder (PMID: 27824329).

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