ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.626dup (p.Asn210fs)

dbSNP: rs2073332970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224314 SCV001396503 pathogenic Li-Fraumeni syndrome 2019-06-19 criteria provided, single submitter clinical testing Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This sequence change creates a premature translational stop signal (p.Asn210Lysfs*6) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. For these reasons, this variant has been classified as Pathogenic.

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