ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.48+1G>C (rs515726118)

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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 RCV000213648 SCV000274677 likely pathogenic Hereditary cancer-predisposing syndrome 2015-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000236723 SCV000293389 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.48+1G>C or IVS1+1G>C and consists of a G>C nucleotide substitution at the +1 position of intron 1 of the PALB2 gene. This variant destroys a canonical splice donor site and is predicted to cause skipping of exon 2, resulting in an in-frame deletion of 20 amino acids that are not part of a critical functional domain. This variant has been reported in an individual with a personal and family history of breast cancer (Hellebrand 2011). Based on the current evidence, we consider PALB2 c.48+1G>C to be a variant of uncertain significance.
PALB2 database RCV000114638 SCV000148585 likely pathogenic Familial cancer of breast 2012-07-16 no assertion criteria provided literature only

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