ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3934+3A>G

gnomAD frequency: 0.00005  dbSNP: rs747852225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805799 SCV000945768 uncertain significance Transposition of the great arteries, dextro-looped 2023-07-03 criteria provided, single submitter clinical testing This sequence change falls in intron 17 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 (rs747852225, gnomAD 0.03%). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 650618). This variant has not been reported in the literature in individuals affected with MED13L-related conditions.
GeneDx RCV001585732 SCV001811720 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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