ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)

dbSNP: rs869312707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209918 SCV000265602 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2015-12-10 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268238 SCV001447022 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268238 SCV001805091 pathogenic not provided 2023-09-19 criteria provided, single submitter clinical testing Not observed at significant frequency 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: 28554332, 29511999, 31785789, 36798993, 31337854, 32646507)
Invitae RCV002515569 SCV003442012 pathogenic Transposition of the great arteries, dextro-looped 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2162 of the MED13L protein (p.Thr2162Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of MED13L-related conditions (PMID: 28554332, 29511999, 31785789). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 224153). 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. For these reasons, this variant has been classified as Pathogenic.

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