ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.891C>T (p.His297=) (rs750578863)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162686 SCV000213140 likely benign Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing
Color RCV000162686 SCV000906719 likely benign Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000420610 SCV000516715 likely benign not specified 2017-07-07 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.
Integrated Genetics/Laboratory Corporation of America RCV000589436 SCV000697454 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing Variant summary: The c.891C>T in TP53 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this predictions were published at the time of evaluation. The variant is present in the broad control population dataset of ExAC at a low frequency (0.0016%), which does not exceed the maximum frequency for a pathogenic variant in TP53 gene (0.0035%), suggesting this variant is not a common polymorphism. The variant of interest has been reported by multiple publications as a somatic occurrence. It has been reported as Likely Benign by at least one reputable database/clinical laboratory without evidence to independently evaluate. Taken together, this variant has been classified as a VUS-possibly benign, until more information becomes available.
Invitae RCV000633402 SCV000754624 likely benign Li-Fraumeni syndrome 2017-12-04 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000420610 SCV000692064 likely benign not specified no assertion criteria provided clinical testing

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