Submissions for variant NM_001378120.1(MBD5):c.3754-9T>C

gnomAD frequency: 0.00100  dbSNP: rs370173652

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188062	SCV000241666	benign	not specified	2014-10-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230037	SCV000290460	benign	Intellectual disability, autosomal dominant 1	2025-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000188062	SCV000339187	likely benign	not specified	2016-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000188062	SCV000614057	benign	not specified	2016-12-15	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000230037	SCV003920184	uncertain significance	Intellectual disability, autosomal dominant 1	2021-03-30	criteria provided, single submitter	clinical testing	MBD5 NM_018328 exon 12 c.3055-9T>C: This variant has not been reported in the literature but is present in 0.3% (78/24026) of African individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs370173652). This variant is present in ClinVar (Variation ID:206053). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, it is not predicted to alter the consensus splice sequence and may not result in an altered protein. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV003436980	SCV004154085	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	MBD5: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003907659	SCV004724674	likely benign	MBD5-related disorder	2019-09-09	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).