ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.179_189del (p.Gln60fs)

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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 RCV003501151 SCV004367838 pathogenic Familial cancer of breast 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln60Leufs*10) 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.

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