ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.548C>G (p.Ser183Ter)

dbSNP: rs1555525970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382449 SCV001581222 pathogenic Li-Fraumeni syndrome 2025-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser183*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 634701). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004027340 SCV004933947 pathogenic Li-Fraumeni syndrome 1 2024-02-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785319 SCV000923887 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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