Is CHD1L p.Arg37= (c.111G>A) pathogenic?

CHD1L p.Arg37= (c.111G>A) is classified Likely benign in CHD1L (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-07-03). Absent from gnomAD v4.1; Associated with CHD1L-related disorder.

What condition is associated with CHD1L p.Arg37= (c.111G>A)?

CHD1L p.Arg37= (c.111G>A) is associated with CHD1L-related disorder (ClinVar).

How common is CHD1L p.Arg37= (c.111G>A) in the general population?

CHD1L p.Arg37= (c.111G>A) is absent from gnomAD v4.1 (gnomAD).

CHD1L p.Arg37=

c.111G>A · VCV3347845

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,277,828)

Conditions

CHD1L-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.2	GERP 1.5, phastCons 0.62
Overall
CADD	12.12	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,277,828). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CHD1L
Protein: p.Arg37=
Coding: c.111G>A
MANE Select: NM_004284
Type: single nucleotide variant
Location: chr1:147242814 (GRCh38)
Gene constraint: LOEUF 1.152 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 73.81 · 7 PDB
Residue 37: an α-helix

Full CHD1L gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CHD1L-related disorder

Similar variants

CHD1L p.Gln594Pro Uncertain significance ★★ same condition
CHD1L p.Gln594His Uncertain significance ★ ⚠ same condition
CHD1L p.Ser420Asn Uncertain significance ⚠ same condition
CHD1L c.1386-2A>G Likely benign same condition
CHD1L p.Arg663Lys Likely benign same condition
CHD1L p.Gln549= Likely benign same condition
CHD1L p.Leu57= Likely benign same condition
CHD1L p.Ser283= Benign same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/chd1l-p-arg37 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown