ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) (rs146989944)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656929 SCV000149694 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing This variant is denoted NBN c.1777C>G at the cDNA level, p.Pro593Ala (P593A) at the protein level, and results in the change of a Proline to an Alanine (CCA>GCA). This variant was observed in an individual with breast cancer (Tung 2015), as well as in a multi-ethnic breast cancer case/control study; however, no statistically significant association with breast cancer was identified after correcting for multiple comparisons (Haiman 2013). NBN Pro593Ala was observed at an allele frequency of 0.22% (52/24,022) in individuals of African ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether NBN Pro593Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000115785 SCV000186185 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000656929 SCV000254769 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212750 SCV000595914 uncertain significance not specified 2016-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000656929 SCV000806419 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
Color RCV000115785 SCV000902825 likely benign Hereditary cancer-predisposing syndrome 2016-06-07 criteria provided, single submitter clinical testing

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