ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2567C>T (p.Thr856Ile) (rs762078830)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414451 SCV000492372 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ3 gene. The T856I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T856I 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 T856I 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. 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.

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