ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1356_2586+201del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058567 SCV001223149 likely pathogenic Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing This variant results in the deletion of exons 5-6 and part of exon 4 (c.1356_2586+201del) of the PALB2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PALB2-related conditions. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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