Submissions for variant NM_000546.6(TP53):c.983dup (p.Thr329fs)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000286554	SCV000329632	pathogenic	not provided	2016-09-13	criteria provided, single submitter	clinical testing	The c.983dupT variant in the TP53 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This duplication causes a frameshift starting with codon Threonine 329, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Thr329HisfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.983dupT to be pathogenic.
Baylor Genetics	RCV001788184	SCV002030231	pathogenic	Li-Fraumeni syndrome 1	2021-02-09	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV002288953	SCV002582441	pathogenic	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788184	SCV002583103	pathogenic	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002519037	SCV003241026	pathogenic	Li-Fraumeni syndrome	2022-10-18	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 279962). This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr329Hisfs*8) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432).

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