ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu)

dbSNP: rs878854977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233130 SCV000289946 uncertain significance Spastic paraplegia 2019-07-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SACS-related disease. This sequence change replaces isoleucine with leucine at codon 3570 of the SACS protein (p.Ile3570Leu). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and leucine. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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