ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.183T>A (p.Asp61Glu)

dbSNP: rs1597374797
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013317 SCV001173892 likely benign Hereditary cancer-predisposing syndrome 2023-04-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001202193 SCV001373298 uncertain significance Li-Fraumeni syndrome 2019-06-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TP53-related conditions. An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 61 of the TP53 protein (p.Asp61Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.
Genome-Nilou Lab RCV001013317 SCV002582147 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290529 SCV002582708 uncertain significance Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569919 SCV005054360 uncertain significance Adrenocortical carcinoma, hereditary 2023-11-08 criteria provided, single submitter clinical testing

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