ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1087G>A (p.Glu363Lys) (rs75262191)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726616 SCV000571925 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing The E363K 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 approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, E363K was observed in 3/694 (0.43%) alleles from individuals of mixed American background in the 1000 Genomes Project. The E363K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and Lysine has been observed at this position in evolution. Additionally, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with congenital myasthenia syndrome (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726616 SCV000701801 uncertain significance not provided 2017-11-18 criteria provided, single submitter clinical testing
Invitae RCV000636631 SCV000758070 likely benign Familial infantile myasthenia 2020-09-20 criteria provided, single submitter clinical testing

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