ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.234A>G (p.Ala78=) (rs375099397)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162662 SCV000213103 likely benign Hereditary cancer-predisposing syndrome 2015-07-24 criteria provided, single submitter clinical testing
Invitae RCV000205540 SCV000259261 uncertain significance Li-Fraumeni syndrome 2018-06-13 criteria provided, single submitter clinical testing This sequence change affects codon 78 of the TP53 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TP53 protein. This variant is present in population databases (rs375099397, ExAC 0.02%). This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 183835). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Counsyl RCV000663098 SCV000786206 likely benign Li-Fraumeni syndrome 1 2018-03-20 criteria provided, single submitter clinical testing
Color RCV000162662 SCV000906613 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781913 SCV000920317 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing

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