ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1179dup (p.His394fs)

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
Invitae RCV001951083 SCV002237655 pathogenic Familial cancer of breast 2021-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PALB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His394Thrfs*7) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575).
Ambry Genetics RCV002334971 SCV002638524 pathogenic Hereditary cancer-predisposing syndrome 2021-08-31 criteria provided, single submitter clinical testing The c.1179dupA pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a duplication of A at nucleotide position 1179, causing a translational frameshift with a predicted alternate stop codon (p.H394Tfs*7). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV001951083 SCV004186167 pathogenic Familial cancer of breast 2023-09-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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