Submissions for variant NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV004440273	SCV004932533	likely pathogenic	Li-Fraumeni syndrome 1	2024-02-16	criteria provided, single submitter	clinical testing	This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 8001119, 8843196, 12509279]. This variant is expected to disrupt protein structure [Myriad internal data].
Labcorp Genetics (formerly Invitae), Labcorp	RCV005104633	SCV005743277	uncertain significance	Li-Fraumeni syndrome	2024-02-23	criteria provided, single submitter	clinical testing	This variant, c.747_748delinsTA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the TP53 protein (p.Arg249_Pro250delinsSerThr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with TP53-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.