ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)

gnomAD frequency: 0.00001  dbSNP: rs370324250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557599 SCV000629468 uncertain significance Spastic paraplegia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1543 of the SACS protein (p.Glu1543Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs370324250, ExAC 0.003%). 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: "Tolerated"; 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.
Athena Diagnostics Inc RCV000992791 SCV001145335 uncertain significance not provided 2018-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001783033 SCV002026529 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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