ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg) (rs749329909)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227611 SCV001399973 uncertain significance Severe myoclonic epilepsy in infancy 2019-09-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 375 of the SNX27 protein (p.Leu375Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs749329909, ExAC 0.01%). 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 (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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