Submissions for variant NM_138773.4(SLC25A46):c.410A>G (p.His137Arg) (rs754427464)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000690963	SCV000818694	uncertain significance	Neuropathy, hereditary motor and sensory, type 6B	2019-12-20	criteria provided, single submitter	clinical testing	This sequence change replaces histidine with arginine at codon 137 of the SLC25A46 protein (p.His137Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs754427464, ExAC 0.01%). 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: "Possibly 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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