ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.1428T>A (p.Tyr476Ter)

dbSNP: rs763395384
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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 RCV002021847 SCV002236082 uncertain significance Hyperekplexia 2 2024-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr476*) in the GLRB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the GLRB protein. 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: 1450846). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the GLRB protein in which other variant(s) (p.Ala477Pro) have been observed in individuals with GLRB-related conditions (PMID: 35526563, 35841715). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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