Submissions for variant NM_015335.5(MED13L):c.6501-2del

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004527092	SCV005039239	likely pathogenic	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	2024-03-22	criteria provided, single submitter	clinical testing	Variant summary: MED13L c.6501-2delA is located in a canonical splice-site in the last intron (intron 30) and is predicted to affect mRNA splicing resulting in an altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 249428 control chromosomes. c.6501-2delA has been detected as a de novo variant in an individual with clinical features of Intellectual Disability And Distinctive Facial Features With Or Without Cardiac Defects tested at our lab. To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.