ClinVar Miner

Submissions for variant NM_005612.5(REST):c.831_832del (p.Cys278fs)

gnomAD frequency: 0.00001  dbSNP: rs869025310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230375 SCV001402851 pathogenic not provided 2021-09-04 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: 222002). This premature translational stop signal has been observed in individual(s) with Wilms tumor (PMID: 26551668). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys278Trpfs*18) in the REST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in REST are known to be pathogenic (PMID: 26551668).
OMIM RCV000207462 SCV000262730 risk factor Wilms tumor 6 2020-06-23 no assertion criteria provided literature only

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