ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)

dbSNP: rs1593122374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815122 SCV000955567 uncertain significance Spastic paraplegia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 3764 of the SACS protein (p.Glu3764Ala). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. 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: "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.
Revvity Omics, Revvity RCV001825638 SCV004236917 uncertain significance Charlevoix-Saguenay spastic ataxia 2023-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825638 SCV002086155 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-02-02 no assertion criteria provided clinical testing

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