ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) (rs757369748)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000454301 SCV000538135 pathogenic Hereditary cancer-predisposing syndrome 2016-08-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657579 SCV000779316 pathogenic not provided 2015-01-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted PALB2 c.106C>T at the cDNA level and p.Gln36Ter (Q36X) at the protein level. 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 mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763378 SCV000894075 pathogenic Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000454301 SCV001352067 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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