ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) (rs748537758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523325 SCV000618159 uncertain significance not provided 2018-10-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The L73P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L73P variant is a 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The L73P variant is not observed in large population cohorts; however, this variant has been detected in two presumably healthy individuals tested at GeneDx (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV000720687 SCV000851566 uncertain significance Seizures 2017-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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