Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001344113 | SCV001538149 | uncertain significance | Transposition of the great arteries, dextro-looped | 2023-06-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 706 of the MED13L protein (p.Gly706Glu). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1040460). This missense change has been observed in individual(s) with neurodevelopmental disorder and/or Tetralogy of Fallot with left pulmonary artery stenosis, lobar holoprosencephaly, developmental delay, and ADHD (PMID: 31144778; Invitae). This variant is present in population databases (rs200257416, gnomAD 0.004%). |