ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206053 SCV001377340 uncertain significance Severe myoclonic epilepsy in infancy 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 524 of the SNX27 protein (p.Arg524Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs751866300, ExAC 0.02%). 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: Tolerated; 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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