ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.160G>T (p.Glu54Ter)

dbSNP: rs2078133150
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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 RCV002034777 SCV002228179 pathogenic not provided 2021-09-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with CTNNB1-related conditions (PMID: 32989326). This sequence change creates a premature translational stop signal (p.Glu54*) in the CTNNB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNB1 are known to be pathogenic (PMID: 23033978, 24614104, 25326669, 26350204, 28575650).
Yale Center for Mendelian Genomics, Yale University RCV001849805 SCV002106910 uncertain significance Conspicuously happy disposition 2020-09-28 no assertion criteria provided literature only

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