ClinVar Miner

Variants with conflicting interpretations studied for Distal spinal muscular atrophy

Coded as:
Minimum review status of the submission for Distal spinal muscular atrophy: Y axis collection method of the submission for Distal spinal muscular atrophy:
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
93 58 0 23 36 0 25 80

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
Distal spinal muscular atrophy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
uncertain significance 19 9 0 27 8
likely benign 0 1 5 0 21
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 26
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 17 0 17 25 0 11 52
not specified 0 22 0 17 20 0 0 37
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 0 3 0 0 0 0 6 6
Charcot-Marie-Tooth disease 0 11 0 0 0 0 4 4
Charcot-Marie-Tooth disease, type 2 0 50 0 0 2 0 2 4
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 0 10 0 1 3 0 0 4
Amyotrophic lateral sclerosis type 4 0 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease, axonal, type 2S 0 0 0 0 0 0 3 3
Inborn genetic diseases 0 0 0 0 0 0 3 3
Spinal muscular atrophy, distal, autosomal recessive, 1 0 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease, axonal, type 2O 0 0 0 0 2 0 0 2
Distal hereditary motor neuronopathy type 5 0 0 0 0 0 0 2 2
Distal hereditary motor neuropathy associated with upper motor neuron signs 0 0 0 0 0 0 2 2
Hereditary spastic paraplegia 0 0 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 0 0 0 0 1 1
Autosomal dominant distal hereditary motor neuropathy 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2C 0 2 0 0 0 0 1 1
Charcot-Marie-Tooth disease, axonal, type 2z 0 0 0 0 0 0 1 1
Distal spinal muscular atrophy, congenital nonprogressive 0 0 0 0 0 0 1 1
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 0 0 0 0 0 0 1 1
Genetic motor neuron disease 0 0 0 0 0 0 1 1
Neuromuscular Diseases 0 0 0 0 0 0 1 1
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 0 0 0 0 0 0 1 1
Scapuloperoneal spinal muscular atrophy 0 0 0 0 0 0 1 1
Seizures; Memory impairment; Gait ataxia; Spastic paraplegia 0 0 0 0 0 0 1 1
Spastic paraplegia 7 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 80
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HGVS dbSNP
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.882-15T>G rs199741850
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile)
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu)
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015548.5(DST):c.1450-2A>T
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[7] (p.Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150
NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.5(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.5(PLEKHG5):c.439+12C>G rs778853521
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.795+8G>A rs114275646
NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780

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