Total 51 pathogenic variants reported for Prolidase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000285.4(PEPD):c.826G>A (p.Asp276Asn) SNV
Germline		 Chr19:33401862 Pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214908 rs_121917721

3 SubmittersRCV000000232RCV000520088
NM_000285.4(PEPD):c.551G>A (p.Arg184Gln) SNV
Germline		 Chr19:33464060 Pathogenic Prolidase deficiency
Condition: not provided
Melanoma		 Criteria Provided
Single Submitter
 CA214913 rs_121917722

3 SubmittersRCV000000235RCV003555875RCV005887120
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) SNV
Germline		 Chr19:33401855 Pathogenic/Likely pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214914 rs_121917723

4 SubmittersRCV000000236RCV002512597
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) SNV
Germline		 Chr19:33387892 Pathogenic/Likely pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214915 rs_121917724

7 SubmittersRCV000000237RCV002512598
NM_000285.4(PEPD):c.793C>T (p.Arg265Ter) SNV
Germline		 Chr19:33411697 Pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339803 rs_121917725

4 SubmittersRCV000000239RCV003555876
NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys) SNV
Germline		 Chr19:33388000 Pathogenic Prolidase deficiency No Assertion Criteria Provided
 CA214918 rs_267606944

1 SubmittersRCV000000240
NM_000285.4(PEPD):c.605C>T (p.Ser202Phe) SNV
Germline		 Chr19:33464006 Pathogenic Prolidase deficiency No Assertion Criteria Provided
 CA339805 rs_267606943

2 SubmittersRCV000000242
NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg) SNV
Germline		 Chr19:33391344 Pathogenic/Likely pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347422 rs_797045185

3 SubmittersRCV000194259RCV003556241
NM_000285.4(PEPD):c.634G>C (p.Ala212Pro) SNV
Germline		 Chr19:33463032 Pathogenic/Likely pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347445 rs_747700126

4 SubmittersRCV000195145RCV002517036
NM_000285.4(PEPD):c.946G>A (p.Val316Ile) SNV
Germline		 Chr19:33401742 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364072 rs_370219399

3 SubmittersRCV000396076RCV001850753
NM_000285.4(PEPD):c.834C>T (p.Gly278=) SNV
Germline		 Chr19:33401854 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364101 rs_371699300

3 SubmittersRCV000311932RCV000957947
NM_000285.4(PEPD):c.819-4G>A SNV
Germline		 Chr19:33401873 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364106 rs_370100218

2 SubmittersRCV000371406RCV003556344
NM_000285.4(PEPD):c.492C>T (p.Asp164=) SNV
Germline		 Chr19:33490007 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided
PEPD-related disorder		 Criteria Provided
Conflicting Classifications
 CA9364302 rs_370105932

3 SubmittersRCV000372612RCV002057498RCV003969936
NM_000285.4(PEPD):c.279G>A (p.Ser93=) SNV
Germline		 Chr19:33511078 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364425 rs_780889402

2 SubmittersRCV000406193RCV000916064
NM_000285.4(PEPD):c.1153-6C>T SNV
Germline		 Chr19:33388087 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10648519 rs_886054335

2 SubmittersRCV000380467RCV002057495
NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser) SNV
Germline		 Chr19:33391402 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9364023 rs_765974570

4 SubmittersRCV000300960RCV001850752RCV002521206
NM_000285.4(PEPD):c.1345-11G>C SNV
Germline		 Chr19:33387492 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9363889 rs_374919986

2 SubmittersRCV000356743RCV002057493
NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) SNV
Germline		 Chr19:33511098 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364428 rs_201865747

3 SubmittersRCV000315182RCV000884956
NM_000285.4(PEPD):c.1311C>T (p.Arg437=) SNV
Germline		 Chr19:33387923 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9363926 rs_369197590

2 SubmittersRCV000366808RCV001859936
NM_000285.4(PEPD):c.967+10G>A SNV
Germline		 Chr19:33401711 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364064 rs_372949783

2 SubmittersRCV000337247RCV003718196
NM_000285.4(PEPD):c.672-9C>G SNV
Germline		 Chr19:33413652 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10652364 rs_886054336

2 SubmittersRCV000328291RCV002057496
NM_000285.4(PEPD):c.624+15G>A SNV
Germline		 Chr19:33463972 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364220 rs_538519269

2 SubmittersRCV000267607RCV002057497
NM_000285.4(PEPD):c.462C>T (p.Ser154=) SNV
Germline		 Chr19:33490037 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364311 rs_375631938

2 SubmittersRCV000278216RCV002523059
NM_000285.4(PEPD):c.447C>T (p.Gly149=) SNV
Germline		 Chr19:33490052 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364320 rs_375023206

2 SubmittersRCV000293585RCV000879105
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) SNV
Germline		 Chr19:33512690 Conflicting classifications of pathogenicity Condition: not provided
Prolidase deficiency		 Criteria Provided
Conflicting Classifications
 CA9364492 rs_200435937

3 SubmittersRCV000732597RCV001127105
NM_000285.4(PEPD):c.100C>T (p.Leu34=) SNV
Germline		 Chr19:33512694 Conflicting classifications of pathogenicity Condition: not provided
Prolidase deficiency		 Criteria Provided
Conflicting Classifications
 CA9364494 rs_376016676

6 SubmittersRCV000970775RCV001127106
NM_000285.4(PEPD):c.504-1G>A SNV
Germline		 Chr19:33478091 Pathogenic/Likely pathogenic Prolidase deficiency
Condition: not provided
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA405229441 rs_542228812

3 SubmittersRCV000991408RCV001869367RCV005912186RCV005912185
NM_000285.4(PEPD):c.549-1G>A SNV
Germline		 Chr19:33464063 Pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA405230843 rs_1204749077

5 SubmittersRCV000995831RCV001858822
NM_000285.4(PEPD):c.1353C>T (p.Ile451=) SNV
Germline		 Chr19:33387473 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9363882 rs_770898814

2 SubmittersRCV001123937RCV003769198
NM_000285.4(PEPD):c.1134C>T (p.Asp378=) SNV
Germline		 Chr19:33391313 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364000 rs_761553925

2 SubmittersRCV001128665RCV001509866
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) SNV
Germline		 Chr19:33391322 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364006 rs_752440638

4 SubmittersRCV001128666RCV001702581
NM_000285.4(PEPD):c.678C>T (p.Phe226=) SNV
Germline		 Chr19:33413637 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364186 rs_746307467

2 SubmittersRCV001124047RCV002556685
NM_000285.4(PEPD):c.402C>T (p.Ser134=) SNV
Germline		 Chr19:33493329 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364362 rs_373639982

2 SubmittersRCV001126707RCV002070072
NM_000285.4(PEPD):c.1344+13G>A SNV
Germline		 Chr19:33387877 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9363913 rs_375401743

2 SubmittersRCV001123938RCV002070022
NM_000285.4(PEPD):c.202-7G>A SNV
Germline		 Chr19:33511162 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9364443 rs_763346457

2 SubmittersRCV001127104RCV002070078
NM_000285.4(PEPD):c.2T>G (p.Met1Arg) SNV
Germline		 Chr19:33521759 Pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9364555 rs_764650519

2 SubmittersRCV001730007RCV005094905
NM_000285.4(PEPD):c.549-1G>T SNV
Germline		 Chr19:33464063 Pathogenic Prolidase deficiency Criteria Provided
Single Submitter
 CA405230841 rs_1204749077

1 SubmittersRCV001730008
NM_000285.4(PEPD):c.418A>T (p.Lys140Ter) SNV
Germline		 Chr19:33493313 Pathogenic/Likely pathogenic Prolidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA405231042 rs_1170952773

6 SubmittersRCV001782595RCV003738096
NM_000285.4(PEPD):c.550C>T (p.Arg184Ter) SNV
Germline		 Chr19:33464061 Pathogenic Condition: not provided
Prolidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9364236 rs_375391662

4 SubmittersRCV001937013RCV002497819
NM_000285.4(PEPD):c.2T>C (p.Met1Thr) SNV
Germline		 Chr19:33521759 Pathogenic/Likely pathogenic Condition: not provided
Prolidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA307575520 rs_764650519

2 SubmittersRCV001930592RCV005023444
NM_000285.4(PEPD):c.819-1G>A SNV
Germline		 Chr19:33401870 Likely pathogenic Condition: not provided
Prolidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA405224831 rs_1305209476

2 SubmittersRCV002030464RCV003448442
NM_000285.4(PEPD):c.442-1G>C SNV
Germline		 Chr19:33490058 Pathogenic/Likely pathogenic Condition: not provided
Prolidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA405230984 rs_907881705

2 SubmittersRCV003564042RCV005208215
NM_000285.4(PEPD):c.1152+1G>A SNV
Germline		 Chr19:33391294 Likely pathogenic Prolidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005028467
NM_000285.4(PEPD):c.768C>G (p.Tyr256Ter) SNV
Germline		 Chr19:33411722 Pathogenic Prolidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005028469
NM_000285.4(PEPD):c.504-2A>C SNV
Germline		 Chr19:33478092 Likely pathogenic Prolidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005028470