ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) (rs1564415858)

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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 RCV000779023 SCV000915469 uncertain significance Megaloblastic anemia due to inborn errors of metabolism 2018-10-11 criteria provided, single submitter clinical testing The CUBN c.7861dupT (p.Tyr2621LeufsTer11) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene and cDNA change, and amino acid change. No publications were found based on this search. The p.Tyr2621LeufsTer11 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Tyr2621LeufsTer11 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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