ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.-12C>T

gnomAD frequency: 0.00002  dbSNP: rs375229869
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434247 SCV000532397 likely benign not specified 2016-09-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000583581 SCV000691568 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000583581 SCV002582328 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289573 SCV002582990 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488960 SCV002802982 likely benign Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5 2022-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583581 SCV004849323 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-08 criteria provided, single submitter clinical testing The c.-12C>T alteration is located in the 5' untranslated region (5'UTR) of the TP53 gene. This alteration consists of a C to T substitution nucleotides upstream from the first translated codon. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005365293 SCV005917499 likely benign Familial cancer of breast; Li-Fraumeni syndrome 1 2020-01-10 criteria provided, single submitter clinical testing

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