ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)

dbSNP: rs753868437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238003 SCV001410797 uncertain significance Transposition of the great arteries, dextro-looped 2019-08-14 criteria provided, single submitter clinical testing 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 conditions. This variant is present in population databases (rs753868437, ExAC 0.002%). This sequence change replaces leucine with phenylalanine at codon 672 of the MED13L protein (p.Leu672Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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