ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) (rs797045938)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192981 SCV000248785 uncertain significance not specified 2014-09-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192981 SCV000337946 benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000192981 SCV000614955 likely benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000687700 SCV000815285 uncertain significance Spastic paraplegia 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with leucine at codon 1373 of the SACS protein (p.Ala1373Leu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related disease. ClinVar contains an entry for this variant (Variation ID: 212113). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.

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