ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.328del (p.Arg110fs) (rs587780066)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115718 SCV000581160 pathogenic Hereditary cancer-predisposing syndrome 2014-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000115718 SCV000149627 pathogenic Hereditary cancer-predisposing syndrome 2013-10-10 criteria provided, single submitter clinical testing This variant is denoted TP53 c.328delC at the cDNA level and p.Arg110ValfsX13 (R110VfsX13) at the protein level. The surrounding sequence is TTTC[delC]GTCT. The deletion causes a frameshift, changing an Arginine to a Valine at codon 110, and creating a premature stop codon at position 13 of the new reading frame. This mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a TP53-related disorder. The variant is found in HEREDICANCER panel(s).

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