Submissions for variant NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) (rs146572467)

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

Total submissions: 4

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000724937	SCV000332543	uncertain significance	not provided	2018-03-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000724937	SCV000279265	uncertain significance	not provided	2018-03-12	criteria provided, single submitter	clinical testing	The E446K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E446K variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The E446K 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. However, this substitution occurs at a position that is not conserved, and Lysine has been seen at this position in evolution. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina	RCV000234705	SCV000374993	uncertain significance	Charcot-Marie-Tooth disease type 4	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000234705	SCV000290178	likely benign	Charcot-Marie-Tooth disease type 4	2017-12-15	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.