ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.227G>A (p.Trp76Ter)

dbSNP: rs121917832
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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 RCV000009371 SCV001404585 pathogenic Multiple endocrine neoplasia type 4 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp76*) 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 premature translational stop signal has been observed in individual(s) with CDKN1B-related conditions (PMID: 17030811). ClinVar contains an entry for this variant (Variation ID: 8823). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009371 SCV000029589 pathogenic Multiple endocrine neoplasia type 4 2010-11-01 no assertion criteria provided literature only

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