ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)

dbSNP: rs281864921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002228072 SCV000959003 pathogenic Hereditary hyperekplexia 2018-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr307*) in the GLRA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GLRA1 are known to be pathogenic (PMID: 20631190). This variant has been observed to segregate with hyperekplexia in a family (PMID: 15771552). ClinVar contains an entry for this variant (Variation ID: 38335). This variant is not present in population databases (ExAC no frequency).
GeneReviews RCV000031893 SCV000054515 pathologic Hyperekplexia 1 2012-10-04 no assertion criteria provided curation Converted during submission to Pathogenic.

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