ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003074785 SCV003459069 uncertain significance Transposition of the great arteries, dextro-looped 2022-07-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs746994172, gnomAD 0.007%). This variant, c.1300_1302del, results in the deletion of 1 amino acid(s) of the MED13L protein (p.Cys434del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with MED13L-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.
PreventionGenetics, part of Exact Sciences RCV004536576 SCV004120162 uncertain significance MED13L-related disorder 2023-05-08 criteria provided, single submitter clinical testing The MED13L c.1300_1302delTGT variant is predicted to result in an in-frame deletion (p.Cys434del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-116446915-CACA-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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