ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe)

gnomAD frequency: 0.00001  dbSNP: rs771909088
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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 RCV003499530 SCV004278169 uncertain significance Transposition of the great arteries, dextro-looped 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1944 of the MED13L protein (p.Ser1944Phe). This variant is present in population databases (rs771909088, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. ClinVar contains an entry for this variant (Variation ID: 2722054). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MED13L protein function with a positive 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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