ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1073C>T (p.Thr358Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003498374 SCV004317735 uncertain significance Transposition of the great arteries, dextro-looped 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 358 of the MED13L protein (p.Thr358Met). This variant is present in population databases (rs139163900, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MED13L protein function with a negative predictive value of 80%. 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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