ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.599del (p.Asn200fs)

dbSNP: rs1131691011
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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 RCV000492564 SCV000581101 pathogenic Hereditary cancer-predisposing syndrome 2013-04-25 criteria provided, single submitter clinical testing 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.
Myriad Genetics, Inc. RCV004023279 SCV004933380 pathogenic Li-Fraumeni syndrome 1 2024-02-15 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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