ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) (rs864622138)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708617 SCV000821757 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000206656 SCV000259425 pathogenic Familial cancer of breast 2018-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1091*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PALB2-related disease. ClinVar contains an entry for this variant (Variation ID: 219518). Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000709374 SCV000838997 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing

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