ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712992 SCV000843552 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV000800081 SCV000939780 uncertain significance Spastic paraplegia 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2847 of the SACS protein (p.Leu2847Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs760976439, ExAC 0.01%). This variant has not been reported in the literature in individuals with SACS-related disease. 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: "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.

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