ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter)

dbSNP: rs2016260522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252804 SCV002522723 likely pathogenic See cases 2021-05-19 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003094103 SCV002934267 pathogenic Polyglucosan body myopathy type 1 2023-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln249*) in the RBCK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RBCK1 are known to be pathogenic (PMID: 2379848, 23104095, 23889995). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1690386). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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