ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2239-3_2239-2del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003604953 SCV004452034 uncertain significance Transposition of the great arteries, dextro-looped 2023-08-18 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the MED13L gene. It does not directly change the encoded amino acid sequence of the MED13L protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs761911776, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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