ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.251C>T (p.Ala84Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002433030 SCV002742017 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017935 SCV004847410 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing The p.Ala84Val variant in TP53 has not been previously reported in individuals with Li-Fraumeni syndrome and was absent from large population studies. This variant has also been reported in ClinVar (Variation ID 1792511). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Baylor Genetics RCV004571148 SCV005054345 uncertain significance Adrenocortical carcinoma, hereditary 2023-12-14 criteria provided, single submitter clinical testing

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