ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.86del (p.Asn29fs)

dbSNP: rs1555526931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633338 SCV000754560 pathogenic Li-Fraumeni syndrome 2017-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant has not been reported in the literature in individuals with TP53-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn29Thrfs*15) in the TP53 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV004025426 SCV004930555 pathogenic Li-Fraumeni syndrome 1 2024-02-12 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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