ClinVar Miner

Variants with conflicting interpretations studied for Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5

Coded as:
Minimum review status of the submission for Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5: Y axis collection method of the submission for Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
132 31 0 4 18 0 6 27

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 0
uncertain significance 3 3 0 15 1
likely benign 0 0 3 0 0
benign 0 0 0 2 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 10 0 2 12 0 0 14
not provided 0 24 0 2 6 0 3 10
Early infantile epileptic encephalopathy 14 0 6 0 1 1 0 2 4
Seizures 0 6 0 0 3 0 0 3
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 184 5 0 0 0 0 1 1
Epilepsy, nocturnal frontal lobe, 5 0 4 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695

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