DECR1 — 53 ClinVar variants
All ClinVar germline DECR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
4 Benign · 9 Likely benign · 40 Uncertain significance
Full DECR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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DECR1 p.Ala20Thr
Uncertain significance
Multiple submitters
progressive encephalopathy with leukodystrophy due to DECR deficiency
-
DECR1 p.Val207Leu
Uncertain significance
Multiple submitters
progressive encephalopathy with leukodystrophy due to DECR deficiency
- DECR1 p.Ala225Glu Uncertain significance Single submitter
- DECR1 p.Gly18Val Uncertain significance Single submitter
- DECR1 p.Gly301Asp Uncertain significance Single submitter
- DECR1 p.Gly301Ser Uncertain significance Single submitter
- DECR1 p.Gly334Ala Uncertain significance Single submitter
- DECR1 p.Ile292Ser Uncertain significance Single submitter
- DECR1 p.Ile325Met Uncertain significance Single submitter
- DECR1 p.Leu15Arg Uncertain significance Single submitter
- DECR1 p.Leu284Pro Uncertain significance Single submitter
- DECR1 p.Met123Ile Uncertain significance Single submitter
- DECR1 p.Met123Thr Uncertain significance Single submitter
- DECR1 p.Phe9Tyr Uncertain significance Single submitter
- DECR1 p.Pro158Ala Uncertain significance Single submitter
- DECR1 p.Ser151Pro Uncertain significance Single submitter
- DECR1 p.Thr10Pro Uncertain significance Single submitter
- DECR1 p.Tyr288Cys Uncertain significance Single submitter
- DECR1 p.Val111Ala Uncertain significance Single submitter
- DECR1 p.Val124Ile Uncertain significance Single submitter
- DECR1 p.Val305Ala Uncertain significance Single submitter
- DECR1 p.Val7Phe Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
-
DECR1 p.Ser26Asn
Likely benign
Multiple submitters
progressive encephalopathy with leukodystrophy due to DECR deficiency
- DECR1 p.Ala173Val Uncertain significance Single submitter
- DECR1 p.Ala278Thr Uncertain significance Single submitter
- DECR1 p.Arg251Cys Uncertain significance Single submitter
- DECR1 p.Arg251His Uncertain significance Single submitter
- DECR1 p.Arg270Cys Uncertain significance Single submitter
- DECR1 p.Arg330Ser Uncertain significance Single submitter
- DECR1 p.Arg6Trp Uncertain significance Single submitter
- DECR1 p.Asn159Asp Uncertain significance Single submitter
- DECR1 p.Asp287Gly Likely benign Single submitter
- DECR1 p.Asp94Gly Uncertain significance Single submitter
- DECR1 p.Gly302Ala Uncertain significance Single submitter
-
DECR1 p.Gly68Ser
Uncertain significance
Single submitter
progressive encephalopathy with leukodystrophy due to DECR deficiency
- DECR1 p.Leu15Met Uncertain significance Single submitter
- DECR1 p.Ser56Asn Uncertain significance Single submitter
- DECR1 p.Thr127Ile Uncertain significance Single submitter
- DECR1 p.Thr255Ala Uncertain significance Single submitter
- DECR1 p.Val175Met Likely benign Single submitter
- DECR1 p.Val296Ile Uncertain significance Single submitter
- DECR1 p.Val317Phe Uncertain significance Single submitter
- DECR1 p.Val87Met Uncertain significance Single submitter
All DECR1 variants
Benign 4
- c.885+9del Single submitter progressive encephalopathy with leukodystrophy due to DECR deficiency
- c.949-30G>C Single submitter
- p.Asn144= Single submitter progressive encephalopathy with leukodystrophy due to DECR deficiency
- p.Asp122= Single submitter progressive encephalopathy with leukodystrophy due to DECR deficiency
Likely benign 9
- p.Ser26Asn Multiple submitters progressive encephalopathy with leukodystrophy due to DECR deficiency ⚠
- p.Asn293= Single submitter
- p.Asp287Gly Single submitter ⚠
- p.Gly264Asp Single submitter
- p.Ile140Val Single submitter
- p.Pro240Leu Single submitter progressive encephalopathy with leukodystrophy due to DECR deficiency
- p.Val175Met Single submitter ⚠
- c.69+4684C>T No assertion criteria DECR1-related disorder
- p.Cys86= No assertion criteria DECR1-related disorder
Uncertain significance 40
- p.Ala20Thr Multiple submitters progressive encephalopathy with leukodystrophy due to DECR deficiency ⚠
- p.Val207Leu Multiple submitters progressive encephalopathy with leukodystrophy due to DECR deficiency ⚠
- p.Ala173Val Single submitter ⚠
- p.Ala225Glu Single submitter ⚠
- p.Ala278Thr Single submitter ⚠
- p.Arg251Cys Single submitter ⚠
- p.Arg251His Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg330Ser Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Asn159Asp Single submitter ⚠
- p.Asp94Gly Single submitter ⚠
- p.Gly18Val Single submitter ⚠
- p.Gly301Asp Single submitter ⚠
- p.Gly301Ser Single submitter ⚠
- p.Gly302Ala Single submitter ⚠
- p.Gly334Ala Single submitter ⚠
- p.Gly68Ser Single submitter progressive encephalopathy with leukodystrophy due to DECR deficiency ⚠
- p.Ile292Ser Single submitter ⚠
- p.Ile325Met Single submitter ⚠
- p.Leu15Arg Single submitter ⚠
- p.Leu15Met Single submitter ⚠
- p.Leu284Pro Single submitter ⚠
- p.Met123Ile Single submitter ⚠
- p.Met123Thr Single submitter ⚠
- p.Phe9Tyr Single submitter ⚠
- p.Pro158Ala Single submitter ⚠
- p.Ser151Pro Single submitter ⚠
- p.Ser56Asn Single submitter ⚠
- p.Thr10Pro Single submitter ⚠
- p.Thr127Ile Single submitter ⚠
- p.Thr255Ala Single submitter ⚠
- p.Tyr288Cys Single submitter ⚠
- p.Val111Ala Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val296Ile Single submitter ⚠
- p.Val305Ala Single submitter ⚠
- p.Val317Phe Single submitter ⚠
- p.Val7Phe Single submitter ⚠
- p.Val87Met Single submitter ⚠