ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2218C>T (p.Gln740Ter) (rs1555460445)

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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 RCV000567438 SCV000665127 pathogenic Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000587693 SCV000699551 likely pathogenic Hereditary breast and ovarian cancer syndrome 2015-11-20 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a truncating mutation at position 740 of the 1180 amino acid long PALB2 protein and is predicted to have a "disease-causing" outcome by mutation taster. The variant is absent from the large and broad cohorts of the NHLBI-ES and ExAC projects and to our knowledge, it was not reported in HBOC spectrum patients either. In vivo/vitro studies to describe the functional impact of the variant have not been published at the time of scoring. The variant of interest shows evidence for pathogenicity: it is a truncating mutation and is absent from controls (ESP, ExAC). Therefore it was classified as likely pathogenic.
Mendelics RCV000567438 SCV000839024 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing

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