ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His) (rs368584364)

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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 RCV000506964 SCV000604017 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The p.Arg918His variant (rs368584364) has not been reported in the medical literature, nor has it been previously identified in our laboratory; however, it is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 305860). It is listed in the NHLBI GO Exome Sequencing Project (ESP) with an overall allele frequency of 0.008% (identified in 1 out of 12,976 chromosomes), and in the Exome Aggregation Consortium (ExAC) browser with an overall frequency of 0.007% (identified in 7 out of 105,500 chromosomes). The arginine at codon 918 is moderately conserved considering 11 species (Alamut software v2.8.1), and computational analyses suggest this variant does not have a significant effect on IGHMBP2 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, based on the available information, the clinical significance of the p.Arg918His variant cannot be determined with certainty.
Illumina Clinical Services Laboratory,Illumina RCV000323396 SCV000373806 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing

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