Submissions for variant NM_014363.6(SACS):c.9551G>A (p.Arg3184His) (rs200453385)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000689777	SCV000817443	uncertain significance	Spastic paraplegia	2018-12-19	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with histidine at codon 3184 of the SACS protein (p.Arg3184His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs200453385, ExAC 0.1%). This variant has not been reported in the literature in individuals with SACS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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