Submissions for variant NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) (rs139200312)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000794428	SCV000933834	uncertain significance	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1	2018-08-16	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with aspartic acid at codon 623 of the SETX protein (p.Glu623Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs139200312, ExAC 0.02%). This variant has been observed in an individual affected with sporadic amyotrophic lateral sclerosis (PMID: 25382069). ClinVar contains an entry for this variant (Variation ID: 155743). 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: "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.
Northcott Neuroscience Laboratory, ANZAC Research Institute	RCV000143814	SCV000188707	non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Benign.

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