ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer)

dbSNP: rs1380139789
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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 RCV000809084 SCV000949224 pathogenic Hyperekplexia 2 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu10*) in the GLRB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLRB are known to be pathogenic (PMID: 23182654, 23184146). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GLRB-related conditions. ClinVar contains an entry for this variant (Variation ID: 653331). For these reasons, this variant has been classified as Pathogenic.

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