ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) (rs566060177)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000290525 SCV000361680 uncertain significance Megaloblastic anemia due to inborn errors of metabolism 2017-04-28 criteria provided, single submitter clinical testing The CUBN c.6359G>A (p.Trp2120Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00007 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and lack of clarifying evidence, the p.Trp2120Ter variant is classified as a variant of unknown significance, but suspicious for pathogenicity for megaloblastic anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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