ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.431+1G>A

dbSNP: rs2134001459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700190 SCV005201761 likely pathogenic not provided 2023-09-24 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 30612076, 17296837, 18711109, 28717674, 26773249, 19191227, 22957248, 23651915)
OMIM RCV000005769 SCV000025951 pathogenic Epilepsy, familial temporal lobe, 1 2007-02-01 no assertion criteria provided literature only

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