ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.234_263del (p.Ala79_Ala88del) (rs754312472)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567464 SCV000676300 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000531064 SCV000629795 uncertain significance Li-Fraumeni syndrome 2017-06-27 criteria provided, single submitter clinical testing This variant, c.234_263del30, results in the deletion of 10 amino acids of the TP53 protein (p.Ala79_Ala88del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TP53-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.
Mendelics RCV000531064 SCV000839126 uncertain significance Li-Fraumeni syndrome 2018-07-02 criteria provided, single submitter clinical testing

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