ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3023A>C (p.Tyr1008Ser)

dbSNP: rs776158206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204927 SCV000259645 uncertain significance Hereditary spastic paraplegia 11 2015-07-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 1008 of the SPG11 protein (p.Tyr1008Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant has not been published in the literature and is not present in population databases. 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, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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