Submissions for variant NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)

gnomAD frequency: 0.00061  dbSNP: rs34995577

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000712260	SCV000241732	benign	not provided	2019-10-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27222293, 21981781, 23055267)
Genetic Services Laboratory, University of Chicago	RCV000188125	SCV000247908	likely benign	not specified	2015-10-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470089	SCV000557165	likely benign	Intellectual disability, autosomal dominant 1	2025-01-19	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000470089	SCV000782477	benign	Intellectual disability, autosomal dominant 1	2024-04-11	criteria provided, single submitter	clinical testing	BS1, BS2, BS4
Athena Diagnostics	RCV000712260	SCV000842706	likely benign	not provided	2018-04-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314674	SCV000847582	likely benign	Inborn genetic diseases	2021-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000470089	SCV001135962	likely benign	Intellectual disability, autosomal dominant 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712260	SCV004042083	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	MBD5: BS1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000188125	SCV004847439	likely benign	not specified	2024-02-05	criteria provided, single submitter	clinical testing	The p.Gly79Glu variant in MBD5 is classified as likely benign because it has been identified in 0.1% (75/68004) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). ACMG/AMP Criteria applied: BS1.
Eurofins Ntd Llc (ga)	RCV000712260	SCV000232763	uncertain significance	not provided	2018-01-16	flagged submission	clinical testing
Elsea Laboratory, Baylor College of Medicine	RCV000455290	SCV000264475	likely pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	flagged submission	research
Fulgent Genetics, Fulgent Genetics	RCV000470089	SCV000611479	uncertain significance	Intellectual disability, autosomal dominant 1	2017-05-23	flagged submission	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907633	SCV004727682	likely benign	MBD5-related disorder	2021-11-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).