ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3765del (p.Cys1256fs)

dbSNP: rs147976828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008828 SCV001168631 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25712080, 28645799)
OMIM RCV000207262 SCV000262636 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-07-21 no assertion criteria provided literature only
GenomeConnect - Brain Gene Registry RCV003223397 SCV003918871 not provided MED13L-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 07-25-2018 by lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect.

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