ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.247del (p.Ala83fs)

dbSNP: rs867725248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004723172 SCV005332778 likely pathogenic not provided 2023-04-10 criteria provided, single submitter clinical testing Frameshift 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); Observed in an individual with osteosarcoma (Gillani et al., 2022); This variant is associated with the following publications: (PMID: 35512711)
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785281 SCV000923849 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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