ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) (rs201987892)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543892 SCV000639018 uncertain significance Transposition of the great arteries, dextro-looped 1 2018-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1173 of the MED13L protein (p.Gly1173Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs201987892, ExAC 0.03%), 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 a MED13L-related disease. In summary, this variant has uncertain impact on MED13L function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000763795 SCV000894709 uncertain significance Transposition of the great arteries, dextro-looped 1; Mental retardation and distinctive facial features with or without cardiac defects 2018-10-31 criteria provided, single submitter clinical testing

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