ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344113 SCV001538149 uncertain significance Transposition of the great arteries, dextro-looped 1 2020-01-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 706 of the MED13L protein (p.Gly706Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs200257416, ExAC 0.004%). This variant has not been reported in the literature in individuals with MED13L-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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