ClinVar Miner

Submissions for variant NM_001037333.3(CYFIP2):c.2690A>G (p.Tyr897Cys)

dbSNP: rs1480245320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001842250 SCV002102432 uncertain significance Developmental and epileptic encephalopathy, 65 2022-02-09 criteria provided, single submitter clinical testing This variant was identified as homozygous in the index as well as in his affected brother. Both parents and one unaffected brother are heterozygous carriers. Although this gene is associated with an autosomal dominant phenotype, a possible recessive form seems likely._x000D_ Criteria applied: PM2_SUP, PP2, PP3

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