ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) (rs779590747)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415957 SCV000493674 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000606714 SCV000726463 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000720736 SCV000851617 uncertain significance Seizures 2017-04-14 criteria provided, single submitter clinical testing The p.V593M variant (also known as c.1777G>A), located in coding exon 18 of the KCNT1 gene, results from a G to A substitution at nucleotide position 1777. The valine at codon 593 is replaced by methionine, an amino acid with highly similar properties. This variant did not co-segregate with disease in three individuals tested in our laboratory. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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