ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) (rs200106732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638201 SCV000759687 uncertain significance Severe myoclonic epilepsy in infancy 2020-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 476 of the SNX27 protein (p.Arg476Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs200106732, ExAC 0.03%). This variant has not been reported in the literature in individuals with SNX27-related conditions. ClinVar contains an entry for this variant (Variation ID: 531720). 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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