ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2997-1G>A (rs754465466)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017865 SCV001179025 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-30 criteria provided, single submitter clinical testing The c.2997-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 10 of the PALB2 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native acceptor splice site; however direct evidence is insufficient at this time (Ambry internal data). RNA analyses have identified naturally occurring alternative splicing involving this exon and have led to the recommendation that in the absence of additional evidence, alterations at this acceptor site be classified as unknown significance (Lopez-Perolio I et al. J. Med. Genet., 2019 Jul;56:453-460). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV001017865 SCV001339495 likely pathogenic Hereditary cancer-predisposing syndrome 2018-12-23 criteria provided, single submitter clinical testing

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