ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.566C>T (p.Ala189Val) (rs121912665)

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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 RCV000132058 SCV000187120 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000144671 SCV000488324 uncertain significance Li-Fraumeni syndrome 1 2016-02-25 criteria provided, single submitter clinical testing
Invitae RCV000536677 SCV000629841 uncertain significance Li-Fraumeni syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 189 of the TP53 protein (p.Ala189Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs121912665, ExAC 0.05%). This variant has been reported in the literature in individuals affected with multiple primary colon tumors (PMID: 12524418), breast cancer (PMID: 23667851, 27374712) and fallopian tube carcinoma (PMID: 29770616). ClinVar contains an entry for this variant (Variation ID: 12382). Experimental studies have shown that this missense change exhibits partial or full transactivation activity similar to the wild-type in yeast-based assays (PMID: 12826609, 24594805, 15037740, 21343334). 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.
OMIM RCV000013182 SCV000033429 pathogenic Familial colorectal cancer 2003-02-01 no assertion criteria provided literature only
Pathway Genomics RCV000144671 SCV000190003 uncertain significance Li-Fraumeni syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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