ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002637274 SCV003512583 uncertain significance Transposition of the great arteries, dextro-looped 2023-12-13 criteria provided, single submitter clinical testing This variant, c.1393_1395del, results in the deletion of 1 amino acid(s) of the MED13L protein (p.Ser465del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331443 SCV004039087 uncertain significance not specified 2023-08-11 criteria provided, single submitter clinical testing Variant summary: MED13L c.1393_1395delTCT (p.Ser465del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 4e-06 in 251254 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1393_1395delTCT 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. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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