ClinVar Miner

Variants with conflicting interpretations studied for Hereditary spastic paraplegia 15

Coded as:
Minimum review status of the submission for Hereditary spastic paraplegia 15: Collection method of the submission for Hereditary spastic paraplegia 15:
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
383 33 0 17 3 0 3 23

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
Hereditary spastic paraplegia 15 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 4 0 3 0 0
uncertain significance 0 3 0 1 2
likely benign 0 0 1 0 13
benign 0 0 2 13 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
Hereditary spastic paraplegia 15 383 33 0 17 3 0 3 23

All variants with conflicting interpretations #

Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met) rs35471427 0.02295
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe) rs117228915 0.00888
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile) rs117367857 0.00826
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg) rs140540720 0.00750
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg) rs143198225 0.00510
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00319
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00246
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly) rs149276487 0.00166
NM_015346.4(ZFYVE26):c.273+13A>G rs150070634 0.00070
NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=) rs139283212 0.00033
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys) rs200340910 0.00019
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr) rs551062468 0.00004
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His) rs201339450 0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344 0.00002
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) rs774809466

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