ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.321C>T (p.Tyr107=)

gnomAD frequency: 0.00001  dbSNP: rs770776262
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220860 SCV000278131 likely benign Hereditary cancer-predisposing syndrome 2015-09-01 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.
GeneDx RCV000614571 SCV000724795 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29979965)
Color Diagnostics, LLC DBA Color Health RCV000220860 SCV000911993 likely benign Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462949 SCV001666877 likely benign Li-Fraumeni syndrome 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000220860 SCV002582259 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288890 SCV002582919 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001462949 SCV004823818 likely benign Li-Fraumeni syndrome 2023-04-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005230125 SCV005872486 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing Classification criteria: BP4, BP7

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