ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) (rs1801234)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288567 SCV000361694 benign Imerslund-Gräsbeck syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825064 SCV000966285 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser1952Ser in exon 39 of CUBN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 75.42% (997/1322) o f African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs1801234).

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