ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)

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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 RCV004518764 SCV005036095 likely benign Hereditary cancer-predisposing syndrome 2023-12-21 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.
Baylor Genetics RCV004573481 SCV005054337 uncertain significance Adrenocortical carcinoma, hereditary 2024-02-12 criteria provided, single submitter clinical testing

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