Is XPC p.Val791fs (c.2371_2372del) pathogenic?

XPC p.Val791fs (c.23712372del) is classified Pathogenic in XPC (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-26). No gnomAD frequency available for this variant.

How common is XPC p.Val791fs (c.2371_2372del) in the general population?

XPC p.Val791fs (c.2371_2372del) is no gnomAD frequency available for this variant (gnomAD).

XPC p.Val791fs

c.2371_2372del · rs2470225400 · VCV2780811

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 13 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.74	GERP -2.1, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: XPC
Protein: p.Val791fs
Coding: c.2371_2372del
MANE Select: NM_004628
dbSNP: rs2470225400
Type: Microsatellite
Location: chr3:14148610 (GRCh38)
Gene constraint: LOEUF 1.023 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 67.67 · 18 PDB
Residue 791: the 'dna-binding; preference for single stranded dna; required for formation of stable nucleoprotein complex' region

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

Similar variants

XPC p.Val791= Likely benign ★ same residue
XPC p.Ala116fs Pathogenic ★★ same type
XPC p.Glu739fs Pathogenic/Likely pathogenic ★★ same type
XPC p.Leu684fs Pathogenic/Likely pathogenic ★★ same type
XPC p.Thr683fs Pathogenic/Likely pathogenic ★★ same type
XPC p.Tyr189fs Pathogenic ★★ same type
XPC p.Val548fs Pathogenic ★★ same type
XPC p.Arg584fs 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/xpc-p-val791fs (accessed [today's date]).

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