ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.672+15T>G

dbSNP: rs140756213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427200 SCV000523783 likely benign not specified 2016-11-23 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355733 SCV001550695 uncertain significance Li-Fraumeni syndrome 1 no assertion criteria provided clinical testing The TP53 c.672+15T>G variant was not identified in the literature nor was it identified in the dbSNP or LOVD 3.0 databases. The variant was only identified in ClinVar (classified as likely benign by GeneDx). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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