ClinVar Miner

Variants with conflicting interpretations studied for Spastic paraplegia 48, autosomal recessive

Coded as:
Minimum review status of the submission for Spastic paraplegia 48, autosomal recessive: Y axis collection method of the submission for Spastic paraplegia 48, autosomal recessive:
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
90 17 0 13 10 0 1 21

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
Spastic paraplegia 48, autosomal recessive pathogenic uncertain significance likely benign
pathogenic 0 1 0
uncertain significance 1 0 0
likely benign 0 2 0
benign 0 8 13

Condition to condition summary #

Total conditions: 4
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
Spastic Paraplegia, Recessive 0 7 0 5 10 0 0 15
not specified 0 6 0 5 2 0 0 7
not provided 0 6 0 3 0 0 0 3
Spastic paraplegia 48, autosomal recessive 125 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593
NM_014855.3(AP5Z1):c.512-7A>G rs73305371
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609

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