ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2282A>G (p.His761Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003079185 SCV003461872 uncertain significance Transposition of the great arteries, dextro-looped 2022-04-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 761 of the MED13L protein (p.His761Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. 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 not expected to disrupt MED13L protein function. 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.
Ambry Genetics RCV003061607 SCV003639219 uncertain significance Inborn genetic diseases 2022-08-12 criteria provided, single submitter clinical testing The c.2282A>G (p.H761R) alteration is located in exon 12 (coding exon 12) of the MED13L gene. This alteration results from a A to G substitution at nucleotide position 2282, causing the histidine (H) at amino acid position 761 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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