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 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
295 32 0 16 5 3 9 24

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 association risk factor
pathogenic 0 10 5 2 2 1 2
likely pathogenic 9 0 6 0 0 0 0
uncertain significance 4 6 0 5 1 0 1
likely benign 1 0 5 0 6 0 1
benign 1 0 1 6 0 0 1
risk factor 2 0 1 1 1 0 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.1174-1G>A
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
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+18G>T rs189961829
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
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.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_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
Single allele

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