ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.192G>C (p.Met64Ile) (rs146631014)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235956 SCV000293637 uncertain significance not provided 2015-12-10 criteria provided, single submitter clinical testing The M64I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in the 1000 Genomes Project or in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The M64I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals; however, Isoleucine is observed at this position in a distantly related species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV001094067 SCV000363339 likely benign Charcot-Marie-Tooth disease, demyelinating, type 1d 2018-01-12 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.
Invitae RCV000527649 SCV000636229 likely benign Charcot-Marie-Tooth disease, type I 2019-12-31 criteria provided, single submitter clinical testing

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