ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003499169 SCV004272667 uncertain significance Transposition of the great arteries, dextro-looped 2023-08-09 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is present in population databases (rs751953837, gnomAD 0.002%). 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).
Ambry Genetics RCV004950409 SCV005444436 likely benign Inborn genetic diseases 2024-10-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004536842 SCV004709634 uncertain significance MED13L-related disorder 2024-02-08 no assertion criteria provided 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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