ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.663G>A (p.Glu221=) (rs1060504161)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483671 SCV000572487 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing This variant is denoted TP53 c.663G>A at the DNA level. Although this variant is silent at the coding level, preserving a Glutamic Acid at codon 221, it is predicted to weaken the natural splice acceptor site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as either a pathogenic germline variant or a benign polymorphism. However, it has been reported as a somatic variant in an ovarian and thyroid tumor (Zou 1993, Høgdall, 2006). TP53 c.663G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 663, is not conserved. Based on currently available information, it is unclear whether TP53 c.663G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000476834 SCV000557346 likely benign Li-Fraumeni syndrome 2016-08-08 criteria provided, single submitter clinical testing

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