Is DHDDS c.*737C>A pathogenic?

DHDDS c.737C>A is classified Uncertain significance in DHDDS (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). Ultra-rare (popmax 0.0917%, amr); Associated with retinitis pigmentosa.

What condition is associated with DHDDS c.*737C>A?

DHDDS c.*737C>A is associated with retinitis pigmentosa (ClinVar).

How common is DHDDS c.*737C>A in the general population?

DHDDS c.*737C>A is ultra-rare (popmax 0.0917%, amr) (gnomAD).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DHDDS c.*737C>A

rs573311409 · VCV297091

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0917%, amr)

Conditions

retinitis pigmentosa

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 3.6	GERP 1.5, phastCons 1
Non-coding constraint	Z 2.28	1 kb window · o/e 0.85 · regional · uncalibrated
Overall
CADD	15.88	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0917% Admixed American · 15/16,366 alleles

Filtering AF 0.0565% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0456%

Overall 0.0229% 36/156,974 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0917%	1,091
Remaining individualsnot grpmax-eligible	0.0436%	2,292
European (non-Finnish)	0.0213%	4,703
African / African-American	0.00962%	10,393
Finnishnot grpmax-eligible	0.0091%	10,984

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DHDDS
Coding: c.*737C>A
MANE Select: NM_205861
dbSNP: rs573311409
Type: single nucleotide variant
Location: chr1:26469868 (GRCh38)
Gene constraint: LOEUF 0.536 · pLI 0.91 (gnomAD)
Structure: AlphaFold pLDDT 95.01 · 9 PDB

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

Disease context

retinitis pigmentosa — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

DHDDS p.Lys42Glu Pathogenic ★★ ⚠ same condition
DHDDS p.Thr206Ala Likely pathogenic ★★ same condition
DHDDS p.Arg265Gln Uncertain significance ★★ ⚠ same condition
DHDDS p.Arg298Pro Uncertain significance ★★ ⚠ same condition
DHDDS p.Arg306Gln Uncertain significance ★★ ⚠ same condition
DHDDS p.Asn18Ser Uncertain significance ★★ ⚠ same condition
DHDDS p.Gln53Glu Uncertain significance ★★ ⚠ same condition
DHDDS p.Leu282Pro Uncertain significance ★★ ⚠ 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/dhdds-c-star-737c-a (accessed [today's date]).

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