ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205743 SCV001377014 uncertain significance Transposition of the great arteries, dextro-looped 1 2019-10-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 191 of the MED13L protein (p.Leu191Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs201690921, 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 MED13L-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Not Available; 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.
GeneDx RCV001565398 SCV001788737 likely benign not provided 2021-06-24 no assertion criteria provided clinical testing

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