ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.294_297del (p.Ser99fs) (rs730882015)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000161056 SCV000211788 pathogenic Hereditary cancer-predisposing syndrome 2014-04-07 criteria provided, single submitter clinical testing This deletion of four nulceotides in the TP 53 gene is denoted c.294_297delTTCC at the cDNA level. The c.294_297delTTCC mutation causes a frameshift starting with codon Serine 99, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ser99ArgfsX23 (S99RfsX23). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge. The variant is found in TP53 panel(s).

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