ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr)

dbSNP: rs1565997289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687245 SCV000814802 uncertain significance Transposition of the great arteries, dextro-looped 2018-05-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1160 of the MED13L protein (p.Cys1160Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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. This variant has not been reported in the literature in individuals with MED13L-related disease. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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