ClinVar Miner

Submissions for variant NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)

dbSNP: rs2133805364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932465 SCV002136753 pathogenic Progressive myoclonic epilepsy type 7 2023-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects KCNC1 function (PMID: 31353862). 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 expected to disrupt KCNC1 protein function. ClinVar contains an entry for this variant (Variation ID: 1367356). This missense change has been observed in individual(s) with clinical features of KCNC1-related conditions (PMID: 31353862; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 399 of the KCNC1 protein (p.Thr399Met).
Institute of Human Genetics, University of Leipzig Medical Center RCV001932465 SCV002505531 likely pathogenic Progressive myoclonic epilepsy type 7 2023-01-16 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS2_MOD, PS3_MOD, PS4_MOD, PM1, PM2_SUP, PP2, PP3

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