ClinVar Miner

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

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Total submissions: 2
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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 RCV000638871 SCV000760425 benign Megaloblastic anemia due to inborn errors of metabolism 2017-09-25 criteria provided, single submitter clinical testing

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