Submissions for variant NM_018328.4(MBD5):c.2314A>C (p.Asn772His) (rs200151142)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000153457	SCV000202964	likely benign	not specified	2014-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000153457	SCV000241700	likely benign	not specified	2017-09-25	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.
Invitae	RCV000474689	SCV000545121	uncertain significance	Mental retardation, autosomal dominant 1	2016-12-12	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with histidine at codon 772 of the MBD5 protein (p.Asn772His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs200151142, ExAC 0.003%) but has not been reported in the literature in individuals with an MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 167263). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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.