ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700556 SCV000829315 uncertain significance Progressive myoclonic epilepsy 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 356 of the SCARB2 protein (p.Met356Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCARB2-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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