ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1036G>A (p.Val346Met) (rs200297914)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115776 SCV000186073 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000115776 SCV000902682 likely benign Hereditary cancer-predisposing syndrome 2015-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589164 SCV000341709 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000212741 SCV000149685 uncertain significance not specified 2017-07-24 criteria provided, single submitter clinical testing This variant is denoted NBN c.1036G>A at the cDNA level, p.Val346Met (V346M) at the protein level, and results in the change of a Valine to a Methionine (GTG>ATG). This variant was reported in an individual with breast cancer and another with endometrial cancer undergoing multigene hereditary cancer testing (Tung 2016, Ring 2016). NBN Val346Met was not observed at significant allele frequency in 1000 Genomes. Since Valine and Methionine share similar properties, this is considered a conservative amino acid substitution. NBN Val346Met occurs at a position that is not conserved and is located in the region of interaction with MTOR, MAPKAP1, and RICTOR (Wang 2013, UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether NBN Val346Met is pathogenic or benign. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000589164 SCV000697932 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV000206863 SCV000261858 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-10-25 criteria provided, single submitter clinical testing

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