ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1089C>T (p.Tyr363=)

gnomAD frequency: 0.00004  dbSNP: rs121908974
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212742 SCV000211429 benign not specified 2014-10-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000160770 SCV000214231 likely benign Hereditary cancer-predisposing syndrome 2015-06-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000724700 SCV000233058 uncertain significance not provided 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV001079308 SCV000253384 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000212742 SCV000309095 likely benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212742 SCV000917848 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079308 SCV001321722 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001079308 SCV002045940 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212742 SCV002069989 likely benign not specified 2019-12-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160770 SCV002536570 likely benign Hereditary cancer-predisposing syndrome 2021-07-22 criteria provided, single submitter curation
Natera, Inc. RCV001079308 SCV002078602 likely benign Microcephaly, normal intelligence and immunodeficiency 2020-02-14 no assertion criteria provided clinical testing

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