ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059764 SCV001224410 uncertain significance Transposition of the great arteries, dextro-looped 1 2019-04-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 376 of the MED13L protein (p.Met376Arg). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is not present in population databases (ExAC no frequency). 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: Unavailable; Align-GVGD: Class C0). 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.
New York Genome Center RCV001542308 SCV001760993 uncertain significance Mental retardation and distinctive facial features with or without cardiac defects 2020-07-10 criteria provided, single submitter clinical testing

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