ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.263G>A (p.Trp88Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001171634 SCV000999933 pathogenic Intellectual disability 2019-11-18 criteria provided, single submitter research The c.263G>A (p.Trp88Ter) variant in the MED13L gene is predicted to introduce a premature translation termination codon. It is predicted to cause loss of normal protein function either through abnormal, prematurely truncated protein, or by absence of protein product due to nonsense-mediated mRNA decay. This variant was not observed in the general population (gnomAD database). Multiple studies, reviewed in Asadollahi et al. 2017 (PMID: 28645799), have reported on the role of loss of function variants in the MED13L gene in individuals with intellectual disability with or without heart defects. This variant was identified in an adult undergoing exome sequencing due to a history of intellectual disability and developmental delay. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001047664 SCV001211635 pathogenic Transposition of the great arteries, dextro-looped 1 2019-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp88*) 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 conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MED13L are known to be pathogenic (PMID: 23403903). For these reasons, this variant has been classified as Pathogenic.

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