Total 30 pathogenic variants reported for Spinocerebellar ataxia type 28 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) SNV
Germline		 Chr18:12337445 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 CA340419 rs_151344520

2 SubmittersRCV000005804
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu) SNV
Germline		 Chr18:12337435 Pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA340424 rs_151344521

1 SubmittersRCV000005806
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) SNV
Germline		 Chr18:12337411 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340426 rs_151344523

5 SubmittersRCV000005807RCV000487661
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) SNV
Germline		 Chr18:12353028 Pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA340428 rs_151344512

2 SubmittersRCV000005808
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) SNV
Germline		 Chr18:12337520 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided
Optic atrophy 12
Spastic ataxia 5
Spinocerebellar ataxia type 28		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342731 rs_151344514

5 SubmittersRCV000023376RCV000992830RCV002490407
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) SNV
Germline		 Chr18:12337519 Pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA342733 rs_151344515

2 SubmittersRCV000023377
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) SNV
Germline		 Chr18:12337505 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 CA342735 rs_151344517

3 SubmittersRCV000023378
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) SNV
Germline		 Chr18:12340220 Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343030 rs_151344513

3 SubmittersRCV000031941RCV004719667
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr) SNV
Germline		 Chr18:12337519 Pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Single Submitter
 CA343032 rs_151344515

2 SubmittersRCV000031943RCV004998125
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu) SNV
Germline		 Chr18:12337504 Likely pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA343034 rs_151344518

2 SubmittersRCV000031946
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys) SNV
Germline		 Chr18:12337418 Pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Single Submitter
 CA343036 rs_151344522

2 SubmittersRCV000031947RCV001207352
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) SNV
Germline		 Chr18:12340306 Likely pathogenic Spastic ataxia 5
Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA175106 rs_727502823

4 SubmittersRCV000149914RCV002265626RCV003144139
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) SNV
Germline		 Chr18:12329645 Conflicting classifications of pathogenicity not specified
Spinocerebellar ataxia type 28
Condition: not provided
Spastic ataxia 5
AFG3L2-related disorder		 Criteria Provided
Conflicting Classifications
 CA321640 rs_117182113

9 SubmittersRCV000197194RCV000369996RCV000488282RCV001262989RCV004755808
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) SNV
Germline		 Chr18:12337349 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28
Spastic ataxia 5
Inborn genetic diseases
Optic atrophy 12
Spinocerebellar ataxia type 28
Spastic ataxia 5		 Criteria Provided
Conflicting Classifications
 CA319947 rs_139469785

8 SubmittersRCV000195592RCV001122821RCV001640293RCV002517193RCV003224221
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) SNV
Germline		 Chr18:12358903 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28
Condition: not provided
AFG3L2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8896651 rs_149605021

5 SubmittersRCV000283135RCV000713023RCV003912361
NM_006796.3(AFG3L2):c.114+12C>T SNV
Germline		 Chr18:12376957 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8896854 rs_758470020

3 SubmittersRCV000394614RCV000422479RCV002524452
NM_006796.3(AFG3L2):c.1164+1G>A SNV
Unknown		 Chr18:12356693 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 rs_1598832526

1 SubmittersRCV000791162
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) SNV
Germline		 Chr18:12337402 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28		 Criteria Provided
Conflicting Classifications
 rs_1598820805

4 SubmittersRCV000992832RCV001809882
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) SNV
Germline		 Chr18:12337451 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1598820860

3 SubmittersRCV000995691RCV001091986
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) SNV
Germline		 Chr18:12356739 Likely pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 rs_1598832568

1 SubmittersRCV000995692
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) SNV
Germline		 Chr18:12359961 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_768999765

2 SubmittersRCV001128629RCV003117775
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser) SNV
Germline		 Chr18:12337454 Likely pathogenic Condition: not provided
Spinocerebellar ataxia type 28		 Criteria Provided
Single Submitter
 rs_797045221

2 SubmittersRCV001268617RCV001773581
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) SNV
Germline		 Chr18:12360045 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 rs_201966169

7 SubmittersRCV001570064RCV001810096RCV004039362RCV004587182
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val) SNV
Germline		 Chr18:12340320 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28		 No Assertion Criteria Provided
 rs_756912142

3 SubmittersRCV001723389RCV001849198
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) SNV
Germline		 Chr18:12337454 Likely pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 rs_797045221

2 SubmittersRCV001787700
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) SNV
Germline		 Chr18:12351354 Pathogenic Condition: not provided
Spastic ataxia 5
Spinocerebellar ataxia type 28
Optic atrophy 12		 Criteria Provided
Single Submitter
 rs_2143165387

2 SubmittersRCV002222799RCV002508979
NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter) SNV
Germline		 Chr18:12348285 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter

1 SubmittersRCV004587708
NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter) SNV
Germline		 Chr18:12353155 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter

1 SubmittersRCV004789981