ClinVar Miner

Submissions for variant NC_000016.9:g.(?_23632663)_(23634471_?)del

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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 RCV004581589 SCV005066920 likely pathogenic Familial cancer of breast 2024-01-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 9-10 of the PALB2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with breast cancer (PMID: 24136930, 32624572). This variant disrupts the WD40-like repeats of the PALB2 protein, which are required for interactions with the BRCA2, POLH, and RAD51C proteins (PMID: 24141787, 24485656). While functional studies have not been performed to directly test the effect of this variant on PALB2 protein function, this suggests that disruption of this region of the protein is causative of disease. 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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