Submissions for variant NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr) (rs147648476)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000652874	SCV000774746	uncertain significance	Neuropathy, hereditary motor and sensory, type 6B	2019-11-15	criteria provided, single submitter	clinical testing	This sequence change replaces proline with threonine at codon 50 of the SLC25A46 protein (p.Pro50Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs147648476, ExAC 0.08%). 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: "Probably Damaging"; 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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