ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)

dbSNP: rs775817492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360855 SCV001556808 uncertain significance Spastic paraplegia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 4409 of the SACS protein (p.Lys4409Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. 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.
Natera, Inc. RCV001826003 SCV002086123 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-05-25 no assertion criteria provided clinical testing

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