Submissions for variant NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp) (rs1561595689)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000685469	SCV000812951	uncertain significance	Neuropathy, hereditary motor and sensory, type 6B	2018-03-28	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with aspartic acid at codon 17 of the SLC25A46 protein (p.Gly17Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC25A46-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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