ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu)

dbSNP: rs1671500919
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063017 SCV001227847 uncertain significance Severe myoclonic epilepsy in infancy 2019-04-16 criteria provided, single submitter clinical testing 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: "Possibly 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. This variant has not been reported in the literature in individuals with SNX27-related conditions. This sequence change replaces proline with leucine at codon 430 of the SNX27 protein (p.Pro430Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency).

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