ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro)

dbSNP: rs1689377026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288396 SCV001475472 likely pathogenic not provided 2020-04-22 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Channelopathy-Associated Epilepsy Research Center RCV003992489 SCV004809256 not provided Severe myoclonic epilepsy in infancy no assertion provided literature only

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