ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1541A>G (p.Asp514Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004736504 SCV005343797 uncertain significance MED13L-related disorder 2024-03-20 no assertion criteria provided clinical testing The MED13L c.1541A>G variant is predicted to result in the amino acid substitution p.Asp514Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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