ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)

dbSNP: rs1555246154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV000515945 SCV000579470 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000687468 SCV000815033 pathogenic Transposition of the great arteries, dextro-looped 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 860 of the MED13L protein (p.Asp860Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with syndromic intellectual disability (PMID: 24896178, 28645799). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 427897). 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 expected to disrupt MED13L protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001537450 SCV001754335 pathogenic not provided 2022-08-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28645799, 24896178, 29951696, 29593475)

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