ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1023C>T (p.Phe341=)

gnomAD frequency: 0.00001  dbSNP: rs864622369
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205880 SCV000260330 likely benign Li-Fraumeni syndrome 2023-09-04 criteria provided, single submitter clinical testing
Counsyl RCV000411500 SCV000489439 likely benign Li-Fraumeni syndrome 1 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV001711616 SCV000535235 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26425688)
Ambry Genetics RCV000575780 SCV000672379 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 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.
Color Diagnostics, LLC DBA Color Health RCV000575780 SCV000686714 likely benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000575780 SCV002582213 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000411500 SCV002582775 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000411500 SCV004017856 benign Li-Fraumeni syndrome 1 2023-04-11 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV000205880 SCV004823726 likely benign Li-Fraumeni syndrome 2023-02-24 criteria provided, single submitter clinical testing

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