ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.2756A>G (p.His919Arg) (rs148869805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507264 SCV000603273 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The p.His919Arg (rs148869805) has not been reported in the scientific literature or gene specific variant databases. The p.His919Arg is listed in the Genome Aggregation Database (gnomAD) with allele frequency of 0.6 percent (identified in 844 out of 126,288chromosomes) in non-Finnish European population and with overall allele frequency of 0.4 percent (1111/ 276,594 chromosomes) including four homozygotes. Histidine 919 is moderately conserved considering 10 species and mouse has arginine at this position suggesting that the amino acid change may be evolutionary tolerated. Computational prediction programs do not support an impact on the protein (SIFT: tolerated, PolyPhen-2: benign, and MutationTaster: polymorphism). Thus the p.His919Arg is likely to be a benign variant.
Invitae RCV001083838 SCV000760425 benign Imerslund-Gräsbeck syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106472 SCV001263542 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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