ClinVar Miner

Variants with conflicting interpretations studied for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42

Coded as:
Minimum review status of the submission for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42: Y axis collection method of the submission for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42:
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
151 57 0 11 15 0 5 29

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
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 1 2 0 14 1
likely benign 0 0 0 0 1
benign 0 0 1 9 0

Condition to condition summary #

Total conditions: 7
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 13 0 8 7 0 0 15
not provided 0 51 0 3 8 0 2 13
History of neurodevelopmental disorder 0 16 0 1 4 0 0 5
Cerebellar ataxia; Dysarthria; Intention tremor; Spastic paraparesis; Mild global developmental delay 0 0 0 0 0 0 1 1
Episodic ataxia type 2 0 2 0 0 0 0 1 1
Global developmental delay; Enlarged cisterna magna 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000068.4(CACNA1A):c.2980_2985GAGGGC[2] (p.994_995EG[2]) rs764399373
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2695G>A (p.Gly899Ser) rs751726770
NM_001127221.1(CACNA1A):c.3046G>A (p.Gly1016Arg) rs190551509
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3424G>A (p.Glu1142Lys) rs780535727
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3687G>A (p.Thr1229=) rs368048030
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127221.1(CACNA1A):c.546G>A (p.Leu182=) rs368347143
NM_001127221.1(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.6070G>A (p.Gly2024Ser) rs574805525
NM_001127221.1(CACNA1A):c.6237C>T (p.Ser2079=) rs758320697
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.6650_6661del (p.His2217_His2220del) rs770368215
NM_001127221.1(CACNA1A):c.6653_6661del (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220dup) rs768950814

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