ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003328948 SCV004035644 pathogenic not provided 2015-03-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003377948 SCV004095966 pathogenic Hereditary cancer-predisposing syndrome 2023-06-20 criteria provided, single submitter clinical testing The p.Q77* pathogenic mutation (also known as c.229C>T), located in coding exon 1 of the CDKN1B gene, results from a C to T substitution at nucleotide position 229. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
PreventionGenetics, part of Exact Sciences RCV003410348 SCV004113019 likely pathogenic CDKN1B-related disorder 2022-11-02 criteria provided, single submitter clinical testing The CDKN1B c.229C>T variant is predicted to result in premature protein termination (p.Gln77*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CDKN1B are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Invitae RCV003619836 SCV004512937 pathogenic Multiple endocrine neoplasia type 4 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln77*) in the CDKN1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN1B are known to be pathogenic (PMID: 17030811, 24819502). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 2579973). For these reasons, this variant has been classified as Pathogenic.

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