ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003327896 SCV004034612 likely pathogenic not provided 2023-09-06 criteria provided, single submitter clinical testing De novo variant in an individual with autism spectrum disorder; additional clinical information was not provided (Takata et al., 2018); 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: 29346770)
Invitae RCV003603156 SCV004538853 pathogenic Transposition of the great arteries, dextro-looped 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2094 of the MED13L protein (p.Pro2094Ser). 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: 29346770; Invitae). In at least one individual the variant was observed to be de novo. 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. This variant disrupts the p.Pro2094 amino acid residue in MED13L. Other variant(s) that disrupt this residue have been observed in individuals with MED13L-related conditions (PMID: 31618753), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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