Total 47 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 Likely pathogenic Prolidase deficiency
Condition: not provided
Criteria Provided
Single Submitter
CA214913 rs_121917722

2 SubmittersRCV000000235RCV003555875

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

3 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
Single Submitter
CA339803 rs_121917725

3 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 Likely pathogenic Prolidase deficiency
Condition: not provided
Criteria Provided
Single Submitter
CA347422 rs_797045185

2 SubmittersRCV000194259RCV003556241

NM_000285.4(PEPD):c.634G>C (p.Ala212Pro) SNV
Germline
Chr19:33463032 Likely pathogenic Prolidase deficiency
Condition: not provided
Criteria Provided
Single Submitter
CA347445 rs_747700126

2 SubmittersRCV000195145RCV002517036

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

2 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.1281G>A (p.Ala427=) SNV
Germline
Chr19:33387953 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9363941 rs_183038027

3 SubmittersRCV000328676RCV001393146

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

2 SubmittersRCV003718196RCV000337247

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
rs_200435937

3 SubmittersRCV000732597RCV001127105

NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) SNV
Germline
Chr19:33387940 Conflicting classifications of pathogenicity Prolidase deficiency
not specified
Condition: not provided
PEPD-related disorder
Criteria Provided
Conflicting Classifications
rs_149042427

7 SubmittersRCV001126609RCV001726400RCV000969162RCV003905968

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

5 SubmittersRCV001127106RCV000970775

NM_000285.4(PEPD):c.504-1G>A SNV
Germline
Chr19:33478091 Likely pathogenic Prolidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_542228812

2 SubmittersRCV000991408RCV001869367

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

3 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
rs_770898814

2 SubmittersRCV001123937RCV003769198

NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln) SNV
Germline
Chr19:33388050 Conflicting classifications of pathogenicity Prolidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_561611888

2 SubmittersRCV001126611RCV001856657

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
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
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
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
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
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
rs_763346457

2 SubmittersRCV001127104RCV002070078

NM_000285.4(PEPD):c.2T>G (p.Met1Arg) SNV
Germline
Chr19:33521759 Pathogenic Prolidase deficiency Criteria Provided
Single Submitter
rs_764650519

1 SubmittersRCV001730007

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

1 SubmittersRCV001730008

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

2 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
rs_375391662

2 SubmittersRCV001937013RCV002497819

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
rs_1305209476

2 SubmittersRCV002030464RCV003448442