ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.338G>T (p.Gly113Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003756654 SCV004563795 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2023-09-20 criteria provided, single submitter clinical testing The MED13L c.338G>T; p.Gly113Val variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.831). Based on available information, this variant is considered to be likely pathogenic.

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