ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.560A>G (p.Tyr187Cys) (rs375284717)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467941 SCV000549202 uncertain significance Troyer syndrome 2016-08-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 187 of the SPG20 protein (p.Tyr187Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases at a very low frequency (rs375284717, ExAC <0.01%) but has not been reported in the literature in individuals with a SPG20-related disease. 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 variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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