ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) (rs139805032)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232090 SCV000289957 uncertain significance Spastic paraplegia 2018-04-16 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1131 of the SACS protein (p.Leu1131Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs139805032, ExAC 0.002%). This variant has not been reported in the literature in individuals with SACS-related disease. ClinVar contains an entry for this variant (Variation ID: 240899). 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: "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.
Mendelics RCV000988965 SCV001138918 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2019-05-28 criteria provided, single submitter clinical testing

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