ClinVar Miner

Submissions for variant NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)

dbSNP: rs1131692231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987625 SCV001137016 likely pathogenic Developmental and epileptic encephalopathy, 65 2019-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898005 SCV004718013 pathogenic CYFIP2-related condition 2023-11-03 criteria provided, single submitter clinical testing The CYFIP2 c.259C>A variant is predicted to result in the amino acid substitution p.Arg87Ser. This variant and multiple other substitutions at this amino acid position (Cys, Leu, Pro, His) have been reported in 14 patients with neurodevelopmental disorder, being confirmed as de novo in 13 of the cases with both parents available for testing (Begemann. 2021. PubMed ID: 33149277). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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