ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1356dup (p.Leu453fs)

dbSNP: rs1553266166
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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 RCV000547553 SCV000636265 pathogenic Severe myoclonic epilepsy in infancy 2017-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu453Thrfs*6) in the SNX27 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SNX27-related disease. Loss-of-function variants in SNX27 are known to be pathogenic (PMID:  25894286). For these reasons, this variant has been classified as Pathogenic.

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