Is EXOC7 p.Asp185= (c.555C>T) pathogenic?

EXOC7 p.Asp185= (c.555C>T) is classified Likely benign in EXOC7 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-01). Very rare (popmax 0.00891%, eas).

How common is EXOC7 p.Asp185= (c.555C>T) in the general population?

EXOC7 p.Asp185= (c.555C>T) is very rare (popmax 0.00891%, eas) (gnomAD).

EXOC7 p.Asp185=

c.555C>T · rs770214235 · VCV2648297

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00891%, eas)

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 -1.6	GERP -4
Overall
CADD	6.645	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00891% East Asian · 4/44,884 alleles

Filtering AF 0.00359% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00255%

Overall 0.00198% 32/1,613,894 alleles · very rare exomes 30/1,461,866 · genomes 2/152,028 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00891%	11,221
South Asian	0.00769%	13,011
Admixed American	0.00334%	29,982
Remaining individualsnot grpmax-eligible	0.0016%	62,490
European (non-Finnish)	0.00144%	69,413
African / African-American	0.00134%	74,872

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: EXOC7
Protein: p.Asp185=
Coding: c.555C>T
MANE Select: NM_001013839
dbSNP: rs770214235
Type: single nucleotide variant
Location: chr17:76097881 (GRCh38)
Gene constraint: LOEUF 0.76 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 83.41

Full EXOC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

EXOC7 p.Arg555His Uncertain significance ★★ ⚠ same type
EXOC7 p.Asp172Tyr Uncertain significance ★★ ⚠ same type
EXOC7 p.Gln390Leu Uncertain significance ★★ ⚠ same type
EXOC7 p.Val218Ile Uncertain significance ★★ ⚠ same type
EXOC7 c.417+41C>G Benign/Likely benign ★★ same type
EXOC7 c.901+656A>G Likely benign ★★ same type
EXOC7 p.Leu494= Benign ★★ same type
EXOC7 c.809-2A>G Pathogenic ★ same type

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/exoc7-p-asp185 (accessed [today's date]).

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