ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1179del (p.Lys393fs)

dbSNP: rs1567221417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774849 SCV000908868 pathogenic Hereditary cancer-predisposing syndrome 2020-03-19 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 4 of the PALB2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Baylor Genetics RCV003472298 SCV004202140 likely pathogenic Familial cancer of breast 2023-11-27 criteria provided, single submitter clinical testing
Genomic Center, National Cancer Institute RCV001293837 SCV001481768 pathogenic Colorectal cancer no assertion criteria provided case-control

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