ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.642T>G (p.His214Gln)

gnomAD frequency: 0.00004  dbSNP: rs587781386
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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 RCV000129218 SCV000183969 likely benign Hereditary cancer-predisposing syndrome 2018-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001283869 SCV000211753 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14559903, 23259501, 16728565, 15781620, 29979965, 31321604)
Invitae RCV000195927 SCV000253315 likely benign Li-Fraumeni syndrome 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000410083 SCV000488187 uncertain significance Li-Fraumeni syndrome 1 2016-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129218 SCV000911487 likely benign Hereditary cancer-predisposing syndrome 2017-12-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283869 SCV001469325 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129218 SCV002530478 likely benign Hereditary cancer-predisposing syndrome 2022-02-10 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267869 SCV002551025 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410083 SCV004017885 uncertain significance Li-Fraumeni syndrome 1 2023-04-11 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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