ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) (rs375875022)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000317718 SCV000383378 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464896 SCV000552971 uncertain significance Spastic paraplegia 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 488 of the SACS protein (p.Pro488Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs375875022, ExAC 0.009%). This variant has not been reported in the literature in individuals with SACS-related disease. ClinVar contains an entry for this variant (Variation ID: 311562). 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.
Athena Diagnostics Inc RCV000712962 SCV000843522 uncertain significance not provided 2018-03-28 criteria provided, single submitter clinical testing

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