ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) (rs757707761)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638303 SCV000759797 uncertain significance Progressive myoclonic epilepsy 2018-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 68 of the CSTB protein (p.Arg68Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CSTB-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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