Submissions for variant NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)

gnomAD frequency: 0.00020  dbSNP: rs149278000

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724572	SCV000233141	uncertain significance	not provided	2018-07-27	criteria provided, single submitter	clinical testing
Invitae	RCV000468202	SCV000545120	benign	Intellectual disability, autosomal dominant 1	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000724572	SCV000617113	benign	not provided	2019-12-04	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000724572	SCV001476679	likely benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724572	SCV002063897	likely benign	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354466	SCV002657145	uncertain significance	Inborn genetic diseases	2017-09-28	criteria provided, single submitter	clinical testing	The p.R200Q variant (also known as c.599G>A), located in coding exon 4 of the MBD5 gene, results from a G to A substitution at nucleotide position 599. The arginine at codon 200 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000678818	SCV000805004	uncertain significance	developmental delay with intractable seizures	2016-11-14	no assertion criteria provided	clinical testing