ClinVar Miner

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

gnomAD frequency: 0.00020  dbSNP: rs149278000
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Total submissions: 7
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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 2022-10-25 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

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