ClinVar Miner

Variants with conflicting interpretations studied for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Coded as:
Minimum review status of the submission for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type: Collection method of the submission for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
365 60 0 4 13 0 3 19

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
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 2 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 2 1 0 12 2
likely benign 0 0 12 0 4
benign 0 0 2 4 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 365 60 0 4 13 0 3 19

All variants with conflicting interpretations #

Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179

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