Total 58 pathogenic variants reported for L-2-hydroxyglutaric aciduria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) SNV
Germline		 Chr14:50269164 Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115107 rs_118204020

7 SubmittersRCV000001674RCV002274874
NM_024884.3(L2HGDH):c.906+1G>T SNV
Germline		 Chr14:50269162 Pathogenic L-2-hydroxyglutaric aciduria No Assertion Criteria Provided
 CA212778 rs_786200870

1 SubmittersRCV000001676
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) SNV
Germline		 Chr14:50302994 Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria
L2HGDH-related disorder		 No Assertion Criteria Provided
 CA115108 rs_118204021

2 SubmittersRCV000001677RCV003398413
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) SNV
Germline		 Chr14:50302132 Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115109 rs_267607206

3 SubmittersRCV000001679RCV000522298
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) SNV
Germline		 Chr14:50267814 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Multiple Submitters
No Conflicts
 CA129468 rs_387907013

3 SubmittersRCV000023778
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) SNV
Germline		 Chr14:50283947 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA172456 rs_564306903

3 SubmittersRCV000146251RCV005641511
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) SNV
Germline		 Chr14:50247181 Conflicting classifications of pathogenicity not specified
Condition: not provided
L-2-hydroxyglutaric aciduria		 Criteria Provided
Conflicting Classifications
 CA206656 rs_369101323

3 SubmittersRCV000193283RCV000712164RCV001088450
NM_024884.3(L2HGDH):c.256+1G>A SNV
Germline		 Chr14:50302901 Pathogenic/Likely pathogenic Condition: not provided
L-2-hydroxyglutaric aciduria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7178088 rs_150299874

5 SubmittersRCV000438376RCV000763339
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) SNV
Germline		 Chr14:50265377 Conflicting classifications of pathogenicity not specified
Condition: not provided
L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7177786 rs_150157112

6 SubmittersRCV000504446RCV000676574RCV000765168RCV002524213
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) SNV
Germline		 Chr14:50265380 Conflicting classifications of pathogenicity not specified
L-2-hydroxyglutaric aciduria
L2HGDH-related disorder		 Criteria Provided
Conflicting Classifications
 CA7177787 rs_373172891

3 SubmittersRCV000503896RCV000882412RCV003942637
NM_024884.3(L2HGDH):c.1155T>G (p.Leu385=) SNV
Germline		 Chr14:50265399 Conflicting classifications of pathogenicity not specified
L-2-hydroxyglutaric aciduria		 Criteria Provided
Conflicting Classifications
 CA7177788 rs_141715606

2 SubmittersRCV000500764RCV002056854
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) SNV
Germline		 Chr14:50283990 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA260749963 rs_887386390

1 SubmittersRCV000501686
NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln) SNV
Germline		 Chr14:50269317 Conflicting classifications of pathogenicity Condition: not provided
L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7177896 rs_767037296

4 SubmittersRCV000516294RCV002525049RCV004639259
NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu) SNV
Germline		 Chr14:50312143 Conflicting classifications of pathogenicity Condition: not provided
not specified
L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7178150 rs_148241854

4 SubmittersRCV000676579RCV001816683RCV002060840RCV005589878
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) SNV
Germline		 Chr14:50312081 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7178135 rs_749417358

4 SubmittersRCV000698657RCV001662770RCV002533535
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) SNV
Germline		 Chr14:50302950 Pathogenic L-2-hydroxyglutaric aciduria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260760325 rs_937345512

6 SubmittersRCV000704144RCV001726311
NM_024884.3(L2HGDH):c.246G>A (p.Glu82=) SNV
Germline		 Chr14:50302912 Conflicting classifications of pathogenicity not specified
L-2-hydroxyglutaric aciduria		 Criteria Provided
Conflicting Classifications
 CA7178089 rs_138070052

2 SubmittersRCV001818842RCV002065836
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) SNV
Germline		 Chr14:50269240 Pathogenic L-2-hydroxyglutaric aciduria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7177879 rs_752025180

3 SubmittersRCV001070930RCV002269335
NM_024884.3(L2HGDH):c.528G>T (p.Glu176Asp) SNV
Germline		 Chr14:50294127 Pathogenic Condition: not provided
L-2-hydroxyglutaric aciduria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389656851 rs_2029895356

2 SubmittersRCV001090529RCV005638549
NM_024884.3(L2HGDH):c.408+1G>C SNV
Germline		 Chr14:50302016 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA389658715 rs_2030438427

2 SubmittersRCV001249462
NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter) SNV
Unknown		 Chr14:50278549 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA389652541 rs_1890096157

1 SubmittersRCV001198185
NM_024884.3(L2HGDH):c.339T>A (p.Cys113Ter) SNV
Germline		 Chr14:50302086 Likely pathogenic L-2-hydroxyglutaric aciduria
Abnormality of metabolism/homeostasis		 Criteria Provided
Single Submitter
 CA389659103 rs_2030444679

2 SubmittersRCV001249463RCV001814291
NM_024884.3(L2HGDH):c.738G>A (p.Lys246=) SNV
Germline		 Chr14:50278520 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA486175905 rs_771091083

1 SubmittersRCV001304188
NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter) SNV
Germline		 Chr14:50269166 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Multiple Submitters
No Conflicts
 CA389650096 rs_1889521207

2 SubmittersRCV001329380
NM_024884.3(L2HGDH):c.408+14T>C SNV
Germline		 Chr14:50302003 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria Criteria Provided
Conflicting Classifications
 CA7178041 rs_77736285

2 SubmittersRCV001329378
NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg) SNV
Germline		 Chr14:50247074 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7177735 rs_375890787

3 SubmittersRCV001334244RCV005652625
NM_024884.3(L2HGDH):c.830G>A (p.Arg277Gln) SNV
Germline		 Chr14:50269239 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Inborn genetic diseases
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7177878 rs_147866347

5 SubmittersRCV001447066RCV003346565RCV004584907RCV006437069
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) SNV
Germline		 Chr14:50312150 Pathogenic L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389648968 rs_1477101414

2 SubmittersRCV001842234RCV004988781
NM_024884.3(L2HGDH):c.160G>A (p.Val54Ile) SNV
Germline		 Chr14:50302998 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7178104 rs_767231867

2 SubmittersRCV001879208RCV003382672
NM_024884.3(L2HGDH):c.418G>C (p.Ala140Pro) SNV
Germline		 Chr14:50294237 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA7178015 rs_759631551

1 SubmittersRCV001967200
NM_024884.3(L2HGDH):c.368A>G (p.Tyr123Cys) SNV
Germline		 Chr14:50302057 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Multiple Submitters
No Conflicts
 CA389658919 rs_2502517059

3 SubmittersRCV002289182
NM_024884.3(L2HGDH):c.844C>T (p.Arg282Trp) SNV
Germline		 Chr14:50269225 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA260740006 rs_570111306

1 SubmittersRCV003062630
NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter) SNV
Germline		 Chr14:50269318 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Multiple Submitters
No Conflicts
 CA7177897 rs_547796370

2 SubmittersRCV003062631
NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu) SNV
Germline		 Chr14:50302917 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA260760288 rs_970541687

1 SubmittersRCV003041205
NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg) SNV
Germline		 Chr14:50302980 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA7178101 rs_771556952

1 SubmittersRCV003079176
NM_024884.3(L2HGDH):c.226A>G (p.Ile76Val) SNV
Germline		 Chr14:50302932 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7178093 rs_377734247

2 SubmittersRCV002923799RCV005362929
NM_024884.3(L2HGDH):c.256+2T>A SNV
Germline		 Chr14:50302900 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA389659457 rs_2502522706

1 SubmittersRCV003015428
NM_024884.3(L2HGDH):c.1197-2A>T SNV
Germline		 Chr14:50247255 Conflicting classifications of pathogenicity Inborn genetic diseases
L-2-hydroxyglutaric aciduria		 Criteria Provided
Conflicting Classifications
 CA260727143 rs_892424035

3 SubmittersRCV002708060RCV006555113
NM_024884.3(L2HGDH):c.632G>T (p.Gly211Val) SNV
Germline		 Chr14:50283942 Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7177952 rs_757615298

2 SubmittersRCV003388192RCV004985316
NM_024884.3(L2HGDH):c.1064+1G>A SNV
Germline		 Chr14:50267752 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA389649066 rs_1389374650

1 SubmittersRCV003859298
NM_024884.3(L2HGDH):c.1065-2A>G SNV
Germline		 Chr14:50265491 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 CA389648686 rs_2503494836

1 SubmittersRCV003861930
NM_024884.3(L2HGDH):c.169G>A (p.Gly57Arg) SNV
Unknown		 Chr14:50302989 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter
 rs_199690954

1 SubmittersRCV004566636
NM_024884.3(L2HGDH):c.427C>T (p.Gln143Ter) SNV
Germline		 Chr14:50294228 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter

1 SubmittersRCV005165055
NM_024884.3(L2HGDH):c.802G>T (p.Glu268Ter) SNV
Germline		 Chr14:50269267 Pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter

1 SubmittersRCV005203353
NM_024884.3(L2HGDH):c.467G>T (p.Gly156Val) SNV
Germline		 Chr14:50294188 Likely pathogenic L-2-hydroxyglutaric aciduria Criteria Provided
Single Submitter

1 SubmittersRCV005882511