ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)

dbSNP: rs1553579225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502637 SCV000596973 pathogenic Developmental and epileptic encephalopathy, 11 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796982 SCV000936518 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 436662). This premature translational stop signal has been observed in individual(s) with autism spectrum disorder (PMID: 27824329). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg856*) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 28379373).
Mendelics RCV000986853 SCV001135996 likely pathogenic Seizures, benign familial infantile, 3 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV003126772 SCV003803553 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay 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: 31272037, 31440721, 35741772, 33004838, 29351919, 30564305, 27824329)

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