ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.656C>T (p.Thr219Met) (rs191743300)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498832 SCV000589342 likely benign not specified 2017-06-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000640145 SCV000761733 uncertain significance Transposition of the great arteries, dextro-looped 1 2017-09-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 219 of the MED13L protein (p.Thr219Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs191743300, ExAC 0.06%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with MED13L-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761843 SCV000892047 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing

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