Total 41 pathogenic variants reported for 3-methylglutaconic aciduria type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) SNV
Germline		 Chr9:91297993 Pathogenic 3-methylglutaconic aciduria type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120085 rs_121434636

5 SubmittersRCV000009623RCV003159091
NM_001698.3(AUH):c.895-1G>A SNV
Germline		 Chr9:91216107 Pathogenic 3-methylglutaconic aciduria type 1 No Assertion Criteria Provided
 CA120088 rs_730880309

1 SubmittersRCV000009624
NM_001698.3(AUH):c.263-2A>G SNV
Germline		 Chr9:91356157 Pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA120089 rs_730880311

2 SubmittersRCV000009626
NM_001698.3(AUH):c.943-2A>G SNV
Germline		 Chr9:91214427 Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 1
AUH-related disorder		 No Assertion Criteria Provided
 CA120090 rs_730880312

2 SubmittersRCV000009627RCV003944810
NC_012920.1(MT-TL1):m.3243A>G SNV
Germline/somatic		 ChrMT:3243 Pathogenic MELAS syndrome
Age related macular degeneration 2
Mitochondrial complex IV deficiency, nuclear type 1
Cyclical vomiting syndrome
MERRF/MELAS overlap syndrome
3-methylglutaconic aciduria type 1
Diabetes-deafness syndrome maternally transmitted
Leigh syndrome
Condition: not provided
Stroke disorder
Glucose intolerance
Sensorineural hearing loss disorder
Short stature
Mitochondrial disease
MERRF syndrome
MELAS syndrome
Cerebral palsy
not specified
See cases
Leigh Syndrome (mtDNA mutation)
Hypertrophic cardiomyopathy
MELAS syndrome
Diabetes-deafness syndrome maternally transmitted
Auditory neuropathy spectrum disorder
Maternally-inherited mitochondrial myopathy
Leigh syndrome, mitochondrial
Histiocytoid cardiomyopathy
MT-TL1-related disorders		 Reviewed By Expert Panel
 CA120560 rs_199474657

39 SubmittersRCV000010206RCV000010209RCV000010211RCV000010210RCV000022902RCV000022901RCV000032997RCV000143997RCV000224855RCV000626561RCV000495738RCV000763623RCV001794441RCV002285005RCV002287327RCV003325938RCV003984803RCV004766997RCV004554593RCV006258917RCV006554431
NM_001698.3(AUH):c.559G>A (p.Gly187Ser) SNV
Germline		 Chr9:91298023 Pathogenic 3-methylglutaconic aciduria type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA128913 rs_387906755

2 SubmittersRCV000022982RCV000196605
NM_001698.3(AUH):c.650G>A (p.Gly217Asp) SNV
Germline		 Chr9:91296026 Pathogenic 3-methylglutaconic aciduria type 1 No Assertion Criteria Provided
 CA128916 rs_387906756

1 SubmittersRCV000022983
NM_001698.3(AUH):c.678C>T (p.Arg226=) SNV
Germline		 Chr9:91220970 Conflicting classifications of pathogenicity not specified
3-methylglutaconic aciduria type 1
AUH-related disorder		 Criteria Provided
Conflicting Classifications
 CA289610 rs_143768042

4 SubmittersRCV000123789RCV000260083RCV003894974
NM_001698.3(AUH):c.824C>T (p.Ala275Val) SNV
Germline		 Chr9:91220824 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
3-methylglutaconic aciduria type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320900 rs_748318386

4 SubmittersRCV000196487RCV000624471RCV001853168
NM_001698.3(AUH):c.742G>A (p.Ala248Thr) SNV
Germline		 Chr9:91220906 Conflicting classifications of pathogenicity Condition: not provided
3-methylglutaconic aciduria type 1		 Criteria Provided
Conflicting Classifications
 CA322021 rs_755299132

2 SubmittersRCV000197560RCV003619660
NM_001698.3(AUH):c.598+10A>C SNV
Germline		 Chr9:91297974 Conflicting classifications of pathogenicity not specified
3-methylglutaconic aciduria type 1		 Criteria Provided
Conflicting Classifications
 CA323678 rs_186203318

3 SubmittersRCV000199136RCV000315330
NM_001698.3(AUH):c.381A>G (p.Ile127Met) SNV
Germline		 Chr9:91355920 Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA324949 rs_146227896

8 SubmittersRCV000275240RCV000487826
NM_001698.3(AUH):c.20C>T (p.Ala7Val) SNV
Germline		 Chr9:91361870 Conflicting classifications of pathogenicity not specified
Condition: not provided
3-methylglutaconic aciduria type 1		 Criteria Provided
Conflicting Classifications
 CA321679 rs_863223911

3 SubmittersRCV000197239RCV000432743RCV001350300
NM_001698.3(AUH):c.951A>T (p.Pro317=) SNV
Germline		 Chr9:91214417 Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1
not specified		 Criteria Provided
Conflicting Classifications
 CA5119663 rs_530710210

3 SubmittersRCV000354984RCV000606408
NM_001698.3(AUH):c.936T>C (p.Tyr312=) SNV
Germline		 Chr9:91216065 Conflicting classifications of pathogenicity not specified
3-methylglutaconic aciduria type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5119683 rs_139628387

5 SubmittersRCV000612120RCV000873524RCV001310658
NM_001698.3(AUH):c.719C>T (p.Ala240Val) SNV
Germline		 Chr9:91220929 Likely pathogenic 3-methylglutaconic aciduria type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5119750 rs_769894315

2 SubmittersRCV000635279RCV001595029
NM_001698.3(AUH):c.599-2A>G SNV
Germline		 Chr9:91296079 Likely pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA373836606 rs_1587799880

1 SubmittersRCV000795885
NM_001698.3(AUH):c.894+9C>A SNV
Germline		 Chr9:91217268 Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1 Criteria Provided
Conflicting Classifications
 CA589432986 rs_1388023086

2 SubmittersRCV001253974
NM_001698.3(AUH):c.655+7G>A SNV
Germline		 Chr9:91296014 Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1 Criteria Provided
Conflicting Classifications
 CA5119789 rs_748099966

2 SubmittersRCV001253999
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) SNV
Germline		 Chr9:91297998 Likely pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA373836859 rs_1827482942

1 SubmittersRCV001205086
NM_001698.3(AUH):c.140C>T (p.Pro47Leu) SNV
Germline		 Chr9:91361750 Conflicting classifications of pathogenicity Condition: not provided
3-methylglutaconic aciduria type 1
Inborn genetic diseases
AUH-related disorder		 Criteria Provided
Conflicting Classifications
 CA5119953 rs_200564356

4 SubmittersRCV001588326RCV002070456RCV002592499RCV003931237
NM_001698.3(AUH):c.556G>T (p.Gly186Cys) SNV
Germline		 Chr9:91298026 Likely pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA373836916 rs_1040881767

1 SubmittersRCV001806387
NM_001698.3(AUH):c.505+1G>C SNV
Germline		 Chr9:91325317 Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA5119838 rs_773652620

2 SubmittersRCV001806388
NM_001698.3(AUH):c.330+1G>A SNV
Germline		 Chr9:91356087 Pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA195930576 rs_751318305

1 SubmittersRCV001808836
NM_001698.3(AUH):c.721C>T (p.Arg241Ter) SNV
Germline		 Chr9:91220927 Pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA5119748 rs_200212229

1 SubmittersRCV001999951
NM_001698.3(AUH):c.385A>G (p.Ile129Val) SNV
Germline		 Chr9:91355916 Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA373835892 rs_1423043030

2 SubmittersRCV001983770RCV005515284
NM_001698.3(AUH):c.419-2A>G SNV
Germline		 Chr9:91325406 Pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter
 CA5119852 rs_748563423

1 SubmittersRCV003860673
NM_001698.3(AUH):c.262+1G>C SNV
Germline		 Chr9:91361627 Likely pathogenic 3-methylglutaconic aciduria type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005396382