PELP1 — 54 ClinVar variants
All ClinVar germline PELP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
9 Likely benign · 45 Uncertain significance
Full PELP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PELP1 p.Ala14Val Uncertain significance Single submitter
- PELP1 p.Ala376Val Uncertain significance Single submitter
- PELP1 p.Ala470Thr Uncertain significance Single submitter
- PELP1 p.Ala493Thr Uncertain significance Single submitter
- PELP1 p.Ala656Val Uncertain significance Single submitter
- PELP1 p.Arg48Gln Uncertain significance Single submitter
- PELP1 p.Asp471Asn Uncertain significance Single submitter
- PELP1 p.Asp950Asn Uncertain significance Single submitter
- PELP1 p.His461Tyr Uncertain significance Single submitter
- PELP1 p.Leu196Ser Uncertain significance Single submitter
- PELP1 p.Leu324Arg Uncertain significance Single submitter
- PELP1 p.Leu75Val Uncertain significance Single submitter
- PELP1 p.Pro207Leu Uncertain significance Single submitter
- PELP1 p.Pro652Ser Uncertain significance Single submitter
- PELP1 p.Pro696Ser Uncertain significance Single submitter
- PELP1 p.Pro746Leu Uncertain significance Single submitter
- PELP1 p.Pro816Leu Uncertain significance Single submitter
- PELP1 p.Ser350Asn Uncertain significance Single submitter
- PELP1 p.Thr705Arg Uncertain significance Single submitter
- PELP1 p.Thr749Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PELP1 p.Ala2Thr Likely benign Single submitter
- PELP1 p.Cys110Ser Uncertain significance Single submitter
- PELP1 p.Glu888Lys Uncertain significance Single submitter
- PELP1 p.Glu952Lys Uncertain significance Single submitter
- PELP1 p.Gly681Asp Uncertain significance Single submitter
- PELP1 p.Leu158Phe Uncertain significance Single submitter
- PELP1 p.Leu529Ile Uncertain significance Single submitter
- PELP1 p.Pro682His Uncertain significance Single submitter
- PELP1 p.Ser173Cys Uncertain significance Single submitter
- PELP1 p.Ser787Asn Uncertain significance Single submitter
All PELP1 variants
Likely benign 9
- p.Ala2Thr Single submitter ⚠
- p.Glu301Lys Single submitter
- p.Glu908del Single submitter
- p.Pro1003= Single submitter
- p.Pro55= Single submitter
- p.Pro590Ser Single submitter
- p.Pro640= Single submitter
- p.Pro694_Val695insMetProSerAlaGlyPro Single submitter
- p.Ser787= Single submitter
Uncertain significance 45
- c.1157+1G>A Single submitter
- c.1275-2A>G Single submitter
- c.25C>G Single submitter
- c.421-1G>T Single submitter
- c.56G>T Single submitter
- c.86C>G Single submitter
- p.Ala14Val Single submitter ⚠
- p.Ala376Val Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Ala493Thr Single submitter ⚠
- p.Ala656Val Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg48Ter Single submitter
- p.Asp471Asn Single submitter ⚠
- p.Asp950Asn Single submitter ⚠
- p.Cys110Ser Single submitter ⚠
- p.Gln603Ter Single submitter
- p.Glu888Lys Single submitter ⚠
- p.Glu952Lys Single submitter ⚠
- p.Gly16= Single submitter
- p.Gly20= Single submitter
- p.Gly513= Single submitter
- p.Gly681Asp Single submitter ⚠
- p.His461Tyr Single submitter ⚠
- p.Leu158Phe Single submitter ⚠
- p.Leu196Ser Single submitter ⚠
- p.Leu297= Single submitter
- p.Leu324Arg Single submitter ⚠
- p.Leu368= Single submitter
- p.Leu529Ile Single submitter ⚠
- p.Leu587= Single submitter
- p.Leu75Val Single submitter ⚠
- p.Pro207Leu Single submitter ⚠
- p.Pro24Ala Single submitter
- p.Pro652Ser Single submitter ⚠
- p.Pro682His Single submitter ⚠
- p.Pro696Ser Single submitter ⚠
- p.Pro746Leu Single submitter ⚠
- p.Pro816Leu Single submitter ⚠
- p.Ser173Cys Single submitter ⚠
- p.Ser350Asn Single submitter ⚠
- p.Ser787Asn Single submitter ⚠
- p.Thr705Arg Single submitter ⚠
- p.Thr749Ile Single submitter ⚠
- p.Leu555fs No assertion criteria Global developmental delay