ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) (rs79414242)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413625 SCV000492099 uncertain significance not specified 2016-11-24 criteria provided, single submitter clinical testing The P726L 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. The P726L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and 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 predicts this variant likely does not alter the protein structure/function.
Invitae RCV001082239 SCV000634126 likely benign Familial infantile myasthenia 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676670 SCV000802465 uncertain significance not provided 2017-11-08 no assertion criteria provided clinical testing

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