ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.862G>A (p.Val288Met)

dbSNP: rs121918416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003894811 SCV004713176 uncertain significance GLRA1-related condition 2024-02-15 criteria provided, single submitter clinical testing The GLRA1 c.862G>A variant is predicted to result in the amino acid substitution p.Val288Met. This variant has been reported in an individual with hyperekplexia; the variant was inherited from the individual's father, though the only phenotype noted in the father was an exaggerated startle response (del Giudice et al. 2001. PubMed ID: 11781706). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000017448 SCV000037720 pathogenic Hyperekplexia 1 2001-11-01 no assertion criteria provided literature only
GeneReviews RCV000017448 SCV000054507 pathologic Hyperekplexia 1 2012-10-04 no assertion criteria provided curation Converted during submission to Pathogenic.

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