ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.768A>G (p.Thr256=)

dbSNP: rs786203563
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166930 SCV000217749 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 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.
Counsyl RCV000410230 SCV000488044 likely benign Li-Fraumeni syndrome 1 2015-12-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166930 SCV000911990 likely benign Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000166930 SCV002582532 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000410230 SCV002582834 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089831 SCV005833451 likely benign Li-Fraumeni syndrome 2024-07-17 criteria provided, single submitter clinical testing

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