ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192633 SCV001360884 likely pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2019-08-14 criteria provided, single submitter clinical testing Variant summary: MED13L c.5269dupC (p.Gln1757ProfsX13) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250814 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5269dupC in individuals affected with Intellectual disability and distinctive facial features with or without cardiac defects and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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