ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.4716del (p.Pro1573fs) (rs1064796113)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483089 SCV000572544 pathogenic not provided 2017-01-13 criteria provided, single submitter clinical testing The c.4716delT variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4716delT variant causes a frameshift starting with codon Proline 1573, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Pro1573LeufsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4716delT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4716delT as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265313 SCV001443430 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-12-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-12-04 and interpreted as Pathogenic. Variant was initially reported on 2017-01-18 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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