ClinVar Miner

Variants with conflicting interpretations studied for Autosomal recessive early-onset Parkinson disease 6

Coded as:
Minimum review status of the submission for Autosomal recessive early-onset Parkinson disease 6: Collection method of the submission for Autosomal recessive early-onset Parkinson disease 6:
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
248 41 0 7 18 0 2 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
Autosomal recessive early-onset Parkinson disease 6 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 2 0 0 11 7
likely benign 0 0 11 0 5
benign 0 0 7 5 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
Autosomal recessive early-onset Parkinson disease 6 248 41 0 7 18 0 2 27

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) rs61744200 0.00956
NM_032409.3(PINK1):c.387+14G>A rs117438827 0.00234
NM_032409.3(PINK1):c.165G>A (p.Glu55=) rs537679886 0.00162
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) rs45478900 0.00146
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) rs551542832 0.00125
NM_032409.3(PINK1):c.387+20A>G rs368222506 0.00122
NM_032409.3(PINK1):c.936G>A (p.Arg312=) rs56200357 0.00091
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) rs76753586 0.00066
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) rs143204084 0.00055
NM_032409.3(PINK1):c.1728A>G (p.Ser576=) rs149994404 0.00033
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773 0.00019
NM_032409.3(PINK1):c.1251+10G>A rs192131551 0.00012
NM_032409.3(PINK1):c.836G>A (p.Arg279His) rs74315358 0.00007
NM_032409.3(PINK1):c.267C>T (p.Ala89=) rs770933972 0.00006
NM_032409.3(PINK1):c.1065A>G (p.Gln355=) rs370470902 0.00005
NM_032409.3(PINK1):c.960-11C>T rs371943401 0.00003
NM_032409.3(PINK1):c.414G>A (p.Pro138=) rs773637957 0.00002
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) rs777160388 0.00002
NM_032409.3(PINK1):c.1123+19A>G rs762129771 0.00001
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val) rs542258150 0.00001
NM_032409.3(PINK1):c.388-10C>G rs763983499 0.00001
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359 0.00001
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) rs548506734
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) rs569753606

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