ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003047180 SCV003341845 pathogenic Familial cancer of breast 2022-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1002*) 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, 17200671, 17200672, 24136930, 25099575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003047180 SCV004189476 pathogenic Familial cancer of breast 2023-09-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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