ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1628A>G (p.Glu543Gly) (rs587781624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129722 SCV000184527 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000781639 SCV000919850 uncertain significance not specified 2018-03-16 criteria provided, single submitter clinical testing Variant summary: NBN c.1628A>G (p.Glu543Gly) alters a non-conserved nucleotide resulting in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-06 in 245936 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in NBN causing Nijmegen Breakage Syndrome (8.1e-06 vs 0.0025), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1628A>G in individuals affected with Nijmegen Breakage Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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