ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.128T>A (p.Leu43Ter)

dbSNP: rs1555526777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521967 SCV000618121 likely pathogenic not provided 2018-08-24 criteria provided, single submitter clinical testing This variant is denoted TP53 c.128T>A at the cDNA level and p.Leu43Ter (L43X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant, we consider it to be likely pathogenic.

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