ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) (rs368624188)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992795 SCV001145342 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111735 SCV001269319 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001245042 SCV001418304 uncertain significance Spastic paraplegia 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2173 of the SACS protein (p.Ile2173Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs368624188, ExAC 0.03%). This variant has not been reported in the literature in individuals 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. RCV001111735 SCV001463600 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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