ClinVar Miner

Variants with conflicting interpretations studied for Metachromatic leukodystrophy

Coded as:
Minimum review status of the submission for Metachromatic leukodystrophy: Y axis collection method of the submission for Metachromatic leukodystrophy:
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
138 84 13 44 23 2 13 82

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
Metachromatic leukodystrophy pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 13 14 7 1 1 1
likely pathogenic 20 0 3 0 0 0
uncertain significance 8 2 0 4 3 1
likely benign 2 0 18 0 14 2
benign 0 0 2 14 0 1
other 1 0 1 1 1 0

Condition to condition summary #

Total conditions: 20
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 27 10 22 3 2 6 36
Metachromatic leukodystrophy 263 10 9 18 2 1 5 31
Nonsyndromic Hearing Loss, Recessive 0 0 0 8 15 0 0 23
Retinitis pigmentosa-deafness syndrome 0 0 0 8 15 0 0 23
not specified 0 12 0 14 7 1 1 20
CDH23-Related Disorders 0 0 0 1 10 0 0 11
Metachromatic leukodystrophy, severe 0 1 1 4 0 0 1 5
Metachromatic leukodystrophy, adult type 0 0 4 1 0 0 0 4
Metachromatic leukodystrophy, juvenile type 0 0 4 1 0 0 0 4
Metachromatic leukodystrophy, late infantile 0 0 1 3 0 0 1 3
Arylsulfatase A pseudodeficiency 0 0 1 0 0 1 2 2
Metachromatic leukodystrophy, mild 0 0 1 0 0 0 1 2
ARYLSULFATASE A POLYMORPHISM 0 0 0 1 0 0 0 1
Arylsulfatase a pseudodeficiency, intermediate 0 0 0 1 0 0 0 1
Arylsulfatase a, allele a 0 0 1 0 0 0 0 1
Leukodystrophy 0 0 0 1 0 0 0 1
Metachromatic leukodystrophy, late-onset 0 0 1 0 0 0 0 1
Mucopolysaccharidosis type VI 0 2 0 0 0 0 1 1
Pseudoarylsulfatase A deficiency 0 0 0 0 0 0 1 1
Usher syndrome, type 1D 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_000046.4(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.-136C>G rs6151408
NM_000487.5(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.5(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.5(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.5(ARSA):c.1210+1G>A rs80338820
NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.5(ARSA):c.1408_1418del11 (p.Ala470Leufs) rs80338823
NM_000487.5(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.5(ARSA):c.195delC (p.Tyr65Terfs) rs398123414
NM_000487.5(ARSA):c.240dupC (p.Gly81Argfs) rs786204599
NM_000487.5(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.5(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.5(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.5(ARSA):c.304delC (p.Leu102Cysfs) rs786204673
NM_000487.5(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.5(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.5(ARSA):c.418dupC (p.His140Profs) rs745884435
NM_000487.5(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.5(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.5(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.5(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.5(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.5(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.5(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.5(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.5(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.5(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.5(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.5(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.5(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.5(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.5(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.5(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000487.6(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_002778.3(PSAP):c.*891G>A rs7869
NM_002778.3(PSAP):c.-10A>G rs76455588
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_002778.3(PSAP):c.1351-14A>G rs4747203
NM_002778.3(PSAP):c.1380C>T (p.Pro460=) rs1049882
NM_022124.5(CDH23):c.*104G>C rs377312107
NM_022124.5(CDH23):c.*141G>A rs535544696
NM_022124.5(CDH23):c.*204A>G rs2290022
NM_022124.5(CDH23):c.*349A>G rs1867978
NM_022124.5(CDH23):c.*361C>A rs115033851
NM_022124.5(CDH23):c.*430A>T rs562268606
NM_022124.5(CDH23):c.*434G>A rs529522213
NM_022124.5(CDH23):c.*510G>A rs1054635
NM_022124.5(CDH23):c.*515C>A rs16929375
NM_022124.5(CDH23):c.*588delA rs148667421
NM_022124.5(CDH23):c.*68G>C rs527311705
NM_022124.5(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.5(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.5(CDH23):c.9319+11G>A rs11000013
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.5(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.5(CDH23):c.9510+13C>T rs183692794
NM_022124.5(CDH23):c.9510+16_9510+22delTCAGGCA rs149704197
NM_022124.5(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.5(CDH23):c.9739-12G>A rs200638595
NM_022124.5(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.5(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.5(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.5(CDH23):c.9983G>A (p.Arg3328His) rs148475933

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