ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) (rs760000324)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502758 SCV000595320 uncertain significance not specified 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV001350755 SCV001545173 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1047 of the KCNT1 protein (p.Val1047Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 435563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCNT1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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