Submissions for variant NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) (rs752035001)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 3

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188117	SCV000241724	uncertain significance	not provided	2014-09-26	criteria provided, single submitter	clinical testing	p.Asp1180Val (D1180V) GAT>GTT: c.3539 A>T in exon 12 of the MBD5 gene (NM_018328.4) The D1180V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D1180V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved through mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge, only deletions and frameshift mutations in MBD5 have been published in association with epilepsy.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Invitae	RCV000472716	SCV000545115	likely benign	Mental retardation, autosomal dominant 1	2019-05-14	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000472716	SCV000896828	uncertain significance	Mental retardation, autosomal dominant 1	2018-10-31	criteria provided, single submitter	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.