ClinVar Miner

Submissions for variant NM_001126113.2(TP53):c.1034C>T (p.Ser345Leu) (rs758194998)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582476 SCV000691694 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000608773 SCV000712827 uncertain significance not specified 2017-02-06 criteria provided, single submitter clinical testing The p.Ser345Leu variant in TP53 has not been previously reported as a germline v ariant in individuals with Li-Fraumeni syndrome. Data from large population stud ies is insufficient to assess the frequency of this variant. Computational predi ction tools and conservation analysis do not provide strong support for or again st an impact to the protein. Of note, this variant is in the coding region of tr anscript NM_001126113.2, but not in other TP53 transcripts. In summary, the clin ical significance of the p.Ser345Leu variant is uncertain.

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