ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs200257416
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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 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%).

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