ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg)

gnomAD frequency: 0.00001  dbSNP: rs772763319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819708 SCV000960384 uncertain significance Progressive myoclonic epilepsy 2019-01-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 43 of the GOSR2 protein (p.Gln43Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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. 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GOSR2-related conditions. This variant is present in population databases (rs772763319, ExAC 0.002%).

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