ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.890del (p.His297fs)

dbSNP: rs2543537706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376085 SCV002687328 pathogenic Hereditary cancer-predisposing syndrome 2019-11-14 criteria provided, single submitter clinical testing The c.890delA pathogenic mutation, located in coding exon 7 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 890, causing a translational frameshift with a predicted alternate stop codon (p.H297Pfs*48). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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