ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.1A>G (p.Met1Val) (rs1131691818)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493631 SCV000582917 pathogenic not provided 2017-05-19 criteria provided, single submitter clinical testing The c.1A>G variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. As this variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.1A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1A>G as a pathogenic variant.
GenomeConnect, ClinGen RCV001249234 SCV001423169 not provided MED13L-Related Disorder no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 05-24-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Simons Searchlight RCV001265314 SCV001443431 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-03-16 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-16 and interpreted as Pathogenic. Variant was initially reported on 2017-05-24 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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