ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1188del (p.Met396fs)

dbSNP: rs2105630210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925710 SCV002180427 pathogenic Intellectual disability, autosomal dominant 1 2021-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met396Ilefs*17) in the MBD5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MBD5 are known to be pathogenic (PMID: 23422940, 23587880).
GenomeConnect - Brain Gene Registry RCV001925710 SCV003918874 not provided Intellectual disability, autosomal dominant 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 07-27-2021 by lab Invitae. 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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