ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1216_1217dup (p.Glu407fs)

dbSNP: rs2102724265
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994635 SCV002228436 pathogenic Severe myoclonic epilepsy in infancy 2021-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SNX27-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu407Thrfs*13) in the SNX27 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SNX27 are known to be pathogenic (PMID: 25894286).

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