ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.514_517dup (p.Val173fs) (rs1555526064)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657325 SCV000779056 likely pathogenic not provided 2018-08-24 criteria provided, single submitter clinical testing This duplication of four nucleotides in TP53 is denoted c.514_517dupGTTG at the cDNA level and p.Val173GlyfsX9 (V173GfsX9) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is GGAG[dupGTTG]TGAG. The duplication causes a frameshift which changes a Valine to a Glycine at codon 173, and creates a premature stop codon at position 9 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

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