ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002735842 SCV003009277 uncertain significance Transposition of the great arteries, dextro-looped 2023-04-11 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MED13L protein function. ClinVar contains an entry for this variant (Variation ID: 1973249). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is present in population databases (rs756880342, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1236 of the MED13L protein (p.Pro1236Thr).
Ambry Genetics RCV004067825 SCV004903713 likely benign Inborn genetic diseases 2023-11-06 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.

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