ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)

dbSNP: rs1555461693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yang An-Suei Laboratory, Academia Sinica RCV000504603 SCV000583421 pathogenic Breast neoplasm criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385716 SCV001585678 pathogenic Familial cancer of breast 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu215*) 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 premature translational stop signal has been observed in individual(s) with a personal or family history of breast cancer (PMID: 29566657, 30720863). ClinVar contains an entry for this variant (Variation ID: 430594). For these reasons, this variant has been classified as Pathogenic.

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