ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) (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 Mental retardation and distinctive facial features with or without cardiac defects 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000687468 SCV000815033 likely pathogenic Transposition of the great arteries, dextro-looped 1 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 860 of the MED13L protein (p.Asp860Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with syndromic intellectual disability (PMID: 28645799, 24896178). ClinVar contains an entry for this variant (Variation ID: 427897). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001537450 SCV001754335 pathogenic not provided 2020-07-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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: 29593475, 29951696, 24896178, 28645799)

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