ClinVar Miner

Variants in gene SPAST with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
587 48 0 21 4 2 14 34

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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 14 8 2 1 0
likely pathogenic 14 0 5 0 0 0
uncertain significance 8 5 0 3 1 1
likely benign 2 0 3 0 7 0
benign 1 0 1 7 0 1
risk factor 0 0 1 0 1 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_014946.3(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.3(SPAST):c.1493+6G>A rs115659052
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.3(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.586+9_586+12del rs554544808
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1196C>T rs1553317025
NM_014946.4(SPAST):c.1252G>A rs1553318164
NM_014946.4(SPAST):c.1276C>T rs1060502227
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)
NM_014946.4(SPAST):c.1360G>A rs1553318230
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1450G>C rs1553318317
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1735A>C rs144594804
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_199436.1(SPAST):c.1113_1116del (p.Phe371fs) rs1553317029

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