ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)

dbSNP: rs28940309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000002187 SCV000746411 uncertain significance Transposition of the great arteries, dextro-looped 2017-12-03 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272007 SCV002557668 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2020-05-25 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v0.6.1, this variant is classified as 3B-VUS. Following criteria are met: 0102 - Loss of function is a known mechanism of disease for this gene. 0107 - This gene is known to be associated with autosomal dominant disease. 0112 - Variants in this gene are known to have reduced penetrance (PMID: 14638541). 0200 - Variant is predicted to result in a missense amino acid change from glutamic acid to glycine. 0301 - Variant is absent from gnomAD. 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. 0600 - Variant is located in an annotated domain or motif that does not have a well established function. 0705 - No comparable variants in relevant codon/region have previous evidence for pathogenicity. 0807 - Variant has not previously been reported in a clinical context. 0905 - No published segregation evidence has been identified for this variant. 1007 - No published functional evidence has been identified for this variant.
Invitae RCV000002187 SCV004529023 uncertain significance Transposition of the great arteries, dextro-looped 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 251 of the MED13L protein (p.Glu251Gly). This variant is present in population databases (rs28940309, gnomAD 0.0009%). This missense change has been observed in individual(s) with transposition of the great arteries (PMID: 14638541). ClinVar contains an entry for this variant (Variation ID: 2106). 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.
OMIM RCV001777129 SCV000022345 pathogenic Impaired intellectual development and distinctive facial features with cardiac defects 2003-12-09 no assertion criteria provided literature only

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