ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1118del (p.Lys373fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360450 SCV001556366 uncertain significance Li-Fraumeni syndrome 2020-08-26 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TP53 gene (p.Lys373Argfs*49). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acids of the TP53 protein and extend the protein by an additional 28 amino acids. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
University Health Network,Princess Margaret Cancer Centre RCV001527466 SCV001738481 pathogenic Familial cancer of breast; Classic Hodgkin lymphoma; Neoplasm of ovary; Nonmedullary thyroid carcinoma 1 2021-03-19 no assertion criteria provided clinical testing

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