ClinVar Miner

Variants with conflicting interpretations studied for Adenylosuccinate lyase deficiency

Coded as:
Minimum review status of the submission for Adenylosuccinate lyase deficiency: Y axis collection method of the submission for Adenylosuccinate lyase deficiency:
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
53 24 0 12 10 0 5 22

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
Adenylosuccinate lyase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 2 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 3 4 0 2 4
likely benign 0 0 5 0 5
benign 0 0 4 6 0

Condition to condition summary #

Total conditions: 3
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 provided 0 23 0 6 7 0 4 15
not specified 0 2 0 7 5 0 0 11
Adenylosuccinate lyase deficiency 82 7 0 4 3 0 3 10

All variants with conflicting interpretations #

Total variants: 22
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HGVS dbSNP
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195

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