ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)

dbSNP: rs886039686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256010 SCV000322629 likely pathogenic not provided 2016-07-19 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.421C>T at the cDNA level and p.Gln141Ter (Q141X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Myriad Genetics, Inc. RCV003454783 SCV004189426 pathogenic Familial cancer of breast 2023-09-06 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.
Invitae RCV003454783 SCV004323123 pathogenic Familial cancer of breast 2023-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln141*) 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. ClinVar contains an entry for this variant (Variation ID: 265636). For these reasons, this variant has been classified as Pathogenic.

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