Submissions for variant NM_000546.6(TP53):c.810dup (p.Glu271Ter)

dbSNP: rs1567548114

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001061445	SCV001226189	pathogenic	Li-Fraumeni syndrome	2019-03-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu271*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432).
Ambry Genetics	RCV002418518	SCV002679449	pathogenic	Hereditary cancer-predisposing syndrome	2019-05-06	criteria provided, single submitter	clinical testing	The c.810dupT pathogenic mutation (also known as p.E271*), located in coding exon 7 of the TP53 gene, results from a duplication of T at nucleotide position 810. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.