ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.3732del (p.Tyr1245fs)

dbSNP: rs1641418583
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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 RCV003037851 SCV003322253 pathogenic not provided 2022-05-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1245Thrfs*12) in the RERE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RERE are known to be pathogenic (PMID: 27087320). This variant has not been reported in the literature in individuals affected with RERE-related conditions. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389084 SCV004101142 likely pathogenic Neurodevelopmental disorder 2023-05-23 criteria provided, single submitter clinical testing

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