Submissions for variant NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) (rs200725073)

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

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000412631	SCV001231156	uncertain significance	Neuropathy, hereditary motor and sensory, type 6B	2019-10-21	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with aspartic acid at codon 249 of the SLC25A46 protein (p.Gly249Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs200725073, ExAC 0.009%). This variant has been observed to segregate with optic atrophy and axonal peripheral neuropathy in a family (PMID: 27543974). ClinVar contains an entry for this variant (Variation ID: 372238). This variant has been reported not to substantially affect SLC25A46 protein function (PMID: 27543974). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM	RCV000412631	SCV000490313	pathogenic	Neuropathy, hereditary motor and sensory, type 6B	2017-01-14	no assertion criteria provided	literature only

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.