ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) (rs1131691764)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494072 SCV000582783 pathogenic not provided 2015-10-22 criteria provided, single submitter clinical testing The c.4403dupG duplication in the MED13L gene has not been reported previously as apathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift startingwith codon Threonine 1470, changes this amino acid to an Asparagine residue, and creates apremature Stop codon at position 9 of the new reading frame, denoted p.Thr1470AsnfsX9. Thisvariant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. The c.4403dupG variant was not observed in approximately 6500individuals 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.4403dupG as apathogenic variant.
GenomeConnect - Simons Searchlight RCV001265262 SCV001443378 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-10-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-10-22 and interpreted as Pathogenic. Variant was initially reported on 2015-11-02 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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