ClinVar Miner

Variants with conflicting interpretations studied for Pyridoxine-dependent epilepsy

Coded as:
Minimum review status of the submission for Pyridoxine-dependent epilepsy: Y axis collection method of the submission for Pyridoxine-dependent epilepsy:
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
121 27 0 16 13 0 4 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
Pyridoxine-dependent epilepsy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 3 0 8 4
likely benign 0 0 7 0 11
benign 0 0 2 10 0

Condition to condition summary #

Total conditions: 5
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 6 0 12 8 0 0 17
not provided 0 21 0 3 6 0 4 12
Pyridoxine-dependent epilepsy 162 4 0 8 4 0 0 11
Seizures 0 5 0 8 3 0 0 10
History of neurodevelopmental disorder 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 29
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HGVS dbSNP
NM_001182.4(ALDH7A1):c.-29T>C rs556650006
NM_001182.4(ALDH7A1):c.-60G>A rs144272515
NM_001182.4(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457
NM_001182.4(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.4(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.4(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.4(ALDH7A1):c.1305C>G (p.Val435=) rs142975776
NM_001182.4(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.4(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248
NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.4(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020
NM_001182.4(ALDH7A1):c.243A>G (p.Arg81=) rs146438406
NM_001182.4(ALDH7A1):c.246+6A>T rs759910341
NM_001182.4(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.4(ALDH7A1):c.313-15G>A rs201720741
NM_001182.4(ALDH7A1):c.34delG (p.Ala12Leufs) rs750693623
NM_001182.4(ALDH7A1):c.354C>T (p.Gly118=) rs149228266
NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.4(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001182.4(ALDH7A1):c.518-12T>G rs79544459
NM_001182.4(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.4(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673
NM_001182.4(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001182.4(ALDH7A1):c.63T>C (p.Pro21=) rs368427726
NM_001182.4(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001182.4(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001182.4(ALDH7A1):c.858G>A (p.Val286=) rs150623275
NM_021007.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423

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