ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala) (rs200647826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414374 SCV000490581 uncertain significance not specified 2016-12-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ3 gene. The P871A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P871A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P871A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660534 SCV000782637 uncertain significance Benign familial neonatal seizures 2 2017-03-16 criteria provided, single submitter clinical testing

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