ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1930C>A (p.Gln644Lys) (rs764050423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564678 SCV000670213 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000564678 SCV000685745 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588176 SCV000697954 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The NBN c.1930C>A (p.Gln644lys) variant involves the alteration of a non-conserved nucleotide and is located within Midasin, AAA ATPase with vWA domain, that is involved in ribosome maturation. 5/5 in silico tools predicting a benign outcome, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control datasets of ExAC and gnomAD (~121274 and 245920 chrs tested, respectively), and has not, to our knowledge, been reported in affected individuals via published reports or cited by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS.

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