ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.895C>T (p.Arg299Ter)

gnomAD frequency: 0.00001  dbSNP: rs757488419
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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 RCV001949676 SCV002243343 pathogenic Hereditary hyperekplexia 2022-12-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1459155). This premature translational stop signal has been observed in individuals with hyperekplexia (PMID: 22532536, 30866851). This variant is present in population databases (rs757488419, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg299*) in the GLRA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLRA1 are known to be pathogenic (PMID: 20631190, 24108130).

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