ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044198 SCV001207980 uncertain significance Transposition of the great arteries, dextro-looped 1 2019-03-20 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 944 of the MED13L protein (p.Phe944Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs764385703, ExAC 0.006%). 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 output the following: SIFT: Tolerated; PolyPhen-2: Not available; Align-GVGD: Class C0. The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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