ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.470T>C (p.Val157Ala) (rs1131691023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492393 SCV000581132 likely pathogenic Hereditary cancer-predisposing syndrome 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Deficient protein function in appropriate functional assay(s),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Structural Evidence
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505579 SCV000599967 likely pathogenic Adrenocortical carcinoma 2013-05-29 no assertion criteria provided research Likely pathogenicity based on finding it once in this study in a 5-year-old male with adrenocortical carcinoma and 2nd degree relatives on both sides of the family with early-onset adult cancer.

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