ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.648G>C (p.Val216=)

gnomAD frequency: 0.00017  dbSNP: rs199693249
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025325 SCV001187494 likely benign Hereditary cancer-predisposing syndrome 2017-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo RCV001270283 SCV001450503 likely benign Squamous cell carcinoma of the head and neck criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV001510729 SCV001717836 benign Li-Fraumeni syndrome 2024-01-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001025325 SCV002532697 likely benign Hereditary cancer-predisposing syndrome 2021-01-07 criteria provided, single submitter curation
Genome-Nilou Lab RCV001025325 SCV002582554 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290558 SCV002582856 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001025325 SCV004359995 likely benign Hereditary cancer-predisposing syndrome 2022-06-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001510729 SCV004823776 likely benign Li-Fraumeni syndrome 2024-03-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002290558 SCV005918343 likely benign Li-Fraumeni syndrome 1 2020-05-04 criteria provided, single submitter clinical testing

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