Total 28 pathogenic variants reported for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) SNV
Germline		 Chr8:102208210 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RRM2B-related mitochondrial disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117487 rs_121918310

8 SubmittersRCV000005722RCV000119016RCV000197531
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) SNV
Germline		 Chr8:102238827 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Mitochondrial disease
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345542 rs_515726180

8 SubmittersRCV000118982RCV000508788RCV001379488RCV001089491RCV002498540
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) SNV
Germline		 Chr8:102232232 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345546 rs_515726181

3 SubmittersRCV000118983RCV000659255RCV005042220
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) SNV
Germline		 Chr8:102232231 Conflicting classifications of pathogenicity RRM2B-related mitochondrial disease
Condition: not provided
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA345556 rs_200273673

4 SubmittersRCV000118985RCV003324724RCV005042221
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) SNV
Germline		 Chr8:102224909 Conflicting classifications of pathogenicity RRM2B-related mitochondrial disease
not specified
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA345586 rs_515726189

3 SubmittersRCV000118997RCV000505928RCV005031616
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) SNV
Germline		 Chr8:102218827 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324021 rs_515726196

8 SubmittersRCV000119006RCV000199478RCV000659254RCV002483200RCV004720239
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) SNV
Germline		 Chr8:102212833 Likely pathogenic RRM2B-related mitochondrial disease
Condition: not provided
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345612 rs_182614164

5 SubmittersRCV000119009RCV001091699RCV005042222
NM_015713.5(RRM2B):c.48+96G>C SNV
Germline		 Chr8:102238731 Conflicting classifications of pathogenicity not specified
RRM2B-related disorder
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		 Criteria Provided
Conflicting Classifications
 CA293117 rs_200373694

5 SubmittersRCV000127811RCV003925264RCV003311690RCV005394464
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) SNV
Germline		 Chr8:102224052 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA323548 rs_147315735

4 SubmittersRCV000199003RCV001164963RCV001164964RCV002517256RCV005031731
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter) SNV
Germline		 Chr8:102224076 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324390 rs_863224191

3 SubmittersRCV000199844RCV005031732
NM_015713.5(RRM2B):c.*2822A>T SNV
Germline		 Chr8:102205311 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA10624458 rs_189278573

1 SubmittersRCV000300250RCV000357451
NM_015713.5(RRM2B):c.*11G>A SNV
Germline		 Chr8:102208122 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
not specified		 Criteria Provided
Conflicting Classifications
 CA4830952 rs_29000285

2 SubmittersRCV000278088RCV000342400RCV000424236
NM_015713.5(RRM2B):c.*3078G>T SNV
Germline		 Chr8:102205055 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a		 Criteria Provided
Conflicting Classifications
 CA10626634 rs_113860402

1 SubmittersRCV000289425RCV000381514
NM_015713.5(RRM2B):c.*817G>A SNV
Germline		 Chr8:102207316 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA10626671 rs_190474682

1 SubmittersRCV000355046RCV000406402
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) SNV
Germline		 Chr8:102208276 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4830963 rs_201440849

2 SubmittersRCV000303281RCV000392494RCV003766074
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) SNV
Germline		 Chr8:102214087 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4831008 rs_377736828

2 SubmittersRCV000269016RCV000314816RCV003766075
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) SNV
Germline		 Chr8:102224056 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4831078 rs_200301242

4 SubmittersRCV000275167RCV000369842RCV000963226
NM_015713.5(RRM2B):c.790-9T>C SNV
Germline		 Chr8:102212898 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4830991 rs_573435546

2 SubmittersRCV000308909RCV000363537RCV002523609
NM_015713.4(RRM2B):c.-101G>A SNV
Germline		 Chr8:102238975 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA182483814 rs_374844049

1 SubmittersRCV001160047RCV001161455
NM_015713.5(RRM2B):c.48+48C>T SNV
Germline		 Chr8:102238779 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RRM2B-related disorder		 Criteria Provided
Conflicting Classifications
 CA4831262 rs_201028777

5 SubmittersRCV001666121RCV002506719RCV003921316
NM_015713.5(RRM2B):c.455+1G>A SNV
Germline		 Chr8:102224884 Likely pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371592168 rs_2132555188

2 SubmittersRCV002049688RCV002498084
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter) SNV
Germline		 Chr8:102232195 Pathogenic Condition: not provided
RRM2B-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4831181 rs_768498594

3 SubmittersRCV003828936RCV004756549RCV004787061
NM_015713.5(RRM2B):c.168T>A (p.Tyr56Ter) SNV
Germline		 Chr8:102232185 Likely pathogenic Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Single Submitter

1 SubmittersRCV005048129
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter) SNV
Germline		 Chr8:102238835 Likely pathogenic Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Single Submitter

1 SubmittersRCV005036001