ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003499169 SCV004272667 uncertain significance Transposition of the great arteries, dextro-looped 2023-08-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 989 of the MED13L protein (p.Pro989Ala). This variant is present in population databases (rs751953837, gnomAD 0.002%). 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. 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.
PreventionGenetics, part of Exact Sciences RCV004536842 SCV004709634 uncertain significance MED13L-related disorder 2024-02-08 criteria provided, single submitter clinical testing The MED13L c.2965C>G variant is predicted to result in the amino acid substitution p.Pro989Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.001% of alleles in individuals in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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