ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)

gnomAD frequency: 0.00003  dbSNP: rs759216914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819099 SCV000959742 pathogenic Neonatal-onset encephalopathy with rigidity and seizures 2023-07-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 661637). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg562*) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575).
Revvity Omics, Revvity RCV001784446 SCV002022071 likely pathogenic not provided 2021-04-21 criteria provided, single submitter clinical testing

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