ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.815_835delinsC (p.Leu272fs)

dbSNP: rs1847221082
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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 RCV001246590 SCV001419953 pathogenic not provided 2019-09-13 criteria provided, single submitter clinical testing Loss-of-function variants in GLE1 are known to be pathogenic (PMID: 18204449, 24243016, 27684565). This sequence change creates a premature translational stop signal (p.Lys272Profs*32) in the GLE1 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 GLE1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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