ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.456_472dup (p.Val158fs)

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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 RCV003052136 SCV003352612 pathogenic not provided 2022-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val158Glyfs*18) in the GLE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLE1 are known to be pathogenic (PMID: 18204449, 24243016, 27684565). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GLE1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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