ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.270C>T (p.Ser90=)

gnomAD frequency: 0.00001  dbSNP: rs863224370
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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 RCV000197196 SCV000253310 likely benign Li-Fraumeni syndrome 2024-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000219692 SCV000275457 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 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 RCV000219692 SCV000908797 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781914 SCV000920318 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283868 SCV001469319 likely benign not provided 2020-07-23 criteria provided, single submitter clinical testing
GeneDx RCV001283868 SCV001825608 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000219692 SCV002582264 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288804 SCV002582925 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895265 SCV004709472 likely benign TP53-related disorder 2023-11-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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