ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) (rs202241382)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165476 SCV000216207 likely benign Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000483117 SCV000290797 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000165476 SCV000396120 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402501 SCV000396121 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000483117 SCV000565345 uncertain significance not provided 2018-10-18 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.1000T>G at the cDNA level, p.Tyr334Asp (Y334D) at the protein level, and results in the change of a Tyrosine to an Aspartic Acid (TAC>GAC). This variant was observed in one breast cancer case (1/82) and four controls (4/380) as well as in one individual with familial pancreatic cancer (Kuusisto 2011, Zhen 2015). PALB2 Tyr334Asp was observed at an allele frequency of 0.50% (129/25742) in individuals of Finnish ancestry in large population cohorts (Lek 2016). This variant is not located within any known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether PALB2 Tyr334Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000165476 SCV000911104 benign Hereditary cancer-predisposing syndrome 2016-10-27 criteria provided, single submitter clinical testing
PALB2 database RCV000114448 SCV000148394 likely benign Familial cancer of breast 2012-07-16 no assertion criteria provided literature only

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