ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)

dbSNP: rs1667222276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217093 SCV001388921 uncertain significance Severe myoclonic epilepsy in infancy 2019-04-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 98 of the SNX27 protein (p.Gly98Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SNX27-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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