ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) (rs886039480)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000454204 SCV000538151 pathogenic Hereditary cancer-predisposing syndrome 2016-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000255054 SCV000322103 likely pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.2368C>T at the cDNA level and p.Gln790Ter (Q790X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
GenomeConnect, ClinGen RCV000509375 SCV000607177 not provided Fanconi anemia; Hereditary cancer no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000552634 SCV000633346 pathogenic Familial cancer of breast 2018-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln790*) 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: 265329). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000255054 SCV000601758 likely pathogenic not provided 2017-05-06 criteria provided, single submitter clinical testing

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