CRLS1
Chr 20ARcardiolipin synthase 1
Also known as: C20orf155, CLS, CLS1, COSPD57, GCD10, dJ967N21.6
The enzyme catalyzes the synthesis of cardiolipin, a critical phospholipid component of mitochondrial membranes essential for maintaining mitochondrial functional integrity and dynamics. Mutations cause combined oxidative phosphorylation deficiency 57, following an autosomal recessive inheritance pattern. The gene shows tolerance to loss-of-function variants (low constraint), which is consistent with the recessive disease mechanism.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
91 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 3 | 28 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 38 | 3 | 0 | 41 |
Likely Benign | 0 | 2 | 1 | 3 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 43 | 34 | 3 | 80 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRLS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools