ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2316_2317del (p.Met772fs)

dbSNP: rs1566005476
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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 RCV000687897 SCV000815489 pathogenic Transposition of the great arteries, dextro-looped 2017-09-05 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 variant has not been reported in the literature in individuals with MED13L-related disease. This sequence change creates a premature translational stop signal (p.Met772Ilefs*8) 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).

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