ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.42G>A (p.Leu14=)

dbSNP: rs773918872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022244 SCV001183958 likely benign Hereditary cancer-predisposing syndrome 2019-01-27 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.
Invitae RCV001423570 SCV001626151 likely benign Li-Fraumeni syndrome 2023-02-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001022244 SCV002582317 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290544 SCV002582979 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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