Submissions for variant NM_000546.6(TP53):c.273_279del (p.Trp91fs)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479803	SCV000572569	likely pathogenic	not provided	2016-12-21	criteria provided, single submitter	clinical testing	The c.273_279delGCCCCTG variant in the TP53 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Tryptophan 91, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Trp91CysfsX30. 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, c.273_279delGCCCCTG is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001865473	SCV002184673	pathogenic	Li-Fraumeni syndrome	2020-12-04	criteria provided, single submitter	clinical testing	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. ClinVar contains an entry for this variant (Variation ID: 422961). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp91Cysfs*30) 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).
Genome-Nilou Lab	RCV002289648	SCV002582412	likely pathogenic	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002289647	SCV002583074	likely pathogenic	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing

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