ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) (rs370521183)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413294 SCV000491097 likely pathogenic not provided 2015-10-05 criteria provided, single submitter clinical testing The I760M variant in the KCNT1 gene has been previously reported in a female with malignantmigrating partial seizures of infancy (Barcia et al., 2012). The I760M variant was not observed inapproximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The I760Mvariant is a conservative amino acid substitution, which occurs at a position that is conserved acrossspecies. In silico analysis predicts this variant is probably damaging to the protein structure/function. The I760M variant is a strong candidate for a pathogenic variant.
OMIM RCV000032796 SCV000056564 pathogenic Early infantile epileptic encephalopathy 14 2012-11-01 no assertion criteria provided literature only

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