ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) (rs886041691)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000289855 SCV000330422 pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing The M516V pathogenic variant in the KCNT1 gene has been reported previously as a de novo pathogenic variant in an individual with Malignant Migrating Partial Seizures in Infancy (Rizzo et al., 2016). Functional studies show that the M516V variant results in increased channel function when compared to wild-type KCNT1 (Rizzo et al., 2016). The M516V variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The M516V pathogenic variant is a conservative amino acid substitution and occurs at a position where amino acids with similar properties to Methionine are tolerated across species. Therefore, the presence of M516V is consistent with a diagnosis of a KCNT1-related disorder
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417014 SCV000494542 likely pathogenic Malignant migrating partial seizures of infancy 2016-11-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253472 SCV001429188 pathogenic Early infantile epileptic encephalopathy 14 2019-08-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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