ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.844C>T (p.Arg282Ter)

gnomAD frequency: 0.00001  dbSNP: rs755775223
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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 RCV001241440 SCV001414457 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg282*) 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 present in population databases (rs755775223, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GLE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966701). For these reasons, this variant has been classified as Pathogenic.

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