ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.844del (p.Arg282fs)

dbSNP: rs1131691027
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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 RCV000492443 SCV000581138 pathogenic Hereditary cancer-predisposing syndrome 2016-01-05 criteria provided, single submitter clinical testing The c.844delC pathogenic mutation, located in coding exon 7 of the TP53 gene, results from a deletion of one nucleotide at position 844, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV004023280 SCV004931563 pathogenic Li-Fraumeni syndrome 1 2024-02-21 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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