Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_001034853.2(RPGR):c.2719G>T (p.Glu907Ter)

CA412729944

3702951 (ClinVar)

Gene: RPGR (HGNC:6103)

Condition: RPGR-related retinopathy (MONDO:0100437)

Inheritance Mode: X-linked inheritance

UUID: 7ba59feb-0c9e-4e36-8274-b5bd3098f874

Approved on: 2026-09-26

Published on: 2026-09-26

HGVS expressions

NM_001034853.2:c.2719G>T

NM_001034853.2(RPGR):c.2719G>T (p.Glu907Ter)

NC_000023.11:g.38286280C>A

CM000685.2:g.38286280C>A

NC_000023.10:g.38145533C>A

CM000685.1:g.38145533C>A

NC_000023.9:g.38030477C>A

NG_009553.1:g.46256G>T

ENST00000494707.6:c.953+1585G>T

ENST00000642170.1:n.1826+4679G>T

ENST00000642395.2:c.1905+814G>T

ENST00000642739.1:c.1572+4679G>T

ENST00000644238.1:c.1386+4679G>T

ENST00000644337.1:c.1719+814G>T

ENST00000645032.1:c.2719G>T

ENST00000645124.1:c.*101+814G>T

ENST00000646020.1:c.*594+814G>T

ENST00000318842.11:c.1905+814G>T

ENST00000339363.7:c.2520+814G>T

ENST00000378505.6:c.2719G>T

ENST00000465127.1:c.172-379841C>A

ENST00000474584.5:c.*37+4679G>T

ENST00000482855.5:c.1905+814G>T

ENST00000494707.5:c.139+4679G>T

NM_000328.2:c.1905+814G>T

NM_001034853.1:c.2719G>T

NM_001367245.1:c.1902+814G>T

NM_001367246.1:c.1719+814G>T

NM_001367247.1:c.1572+4679G>T

NM_001367248.1:c.1602+4679G>T

NM_001367249.1:c.1569+4679G>T

NM_001367250.1:c.1569+4679G>T

NM_001367251.1:c.1386+4679G>T

NR_159803.1:n.2263+814G>T

NR_159804.1:n.1648+4679G>T

NR_159805.1:n.1714+4679G>T

NR_159806.1:n.1866+814G>T

NR_159807.1:n.1622+4679G>T

NR_159808.1:n.1826+4679G>T

NM_000328.3:c.1905+814G>T

Pathogenic

PP1_Moderate PP4 PM2_Supporting PVS1

Evidence Links 0

Expert Panel

X-linked Inherited Retinal Disease VCEP

Criteria Specification Information

Criteria Specification: ClinGen X-linked Inherited Retinal Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPGR Version 1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

X-linked Inherited Retinal Disease VCEP

NM_001034853.2(RPGR):c.2719G>T (p.Glu907Ter) is a nonsense variant that introduces a premature stop codon between amino acids 1-1132 that is predicted to disrupt a critical C-terminal region required for proper glutamylation of RPGR (PVS1, PMID: 36445968). This variant is absent from hemizygous individuals in gnomAD v4.1.1 (PM2_Supporting). At least one proband harboring this variant exhibits a phenotype including Cone dystrophy (1), 2nd decade onset (1), abnormal color vision (0.5), decreased central vision acuity (0.5), ERG absent (0), pigmentary retinopathy (0.5), and macular atrophy (1), which together are specific for RPGR-related retinopathy (4.5 points, PMID: 35806195, PP4). The variant has been reported to segregate with retinal dystrophy through at least 3 affected meioses from 1 family. (PP1_moderate; PMID: 41686256). In summary, this variant is classified as pathogenic for RPGR-related retinopathy based on the ClinGen X-linked Inherited Retinal Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPGR Version 1.0.0: PVS1, PP1_strong, PP4, and PM2_supporting.

PP1_Moderate

The variant has been reported to segregate with retinal dystrophy through at least 3 affected meioses from 1 family. (PP1_moderate; PMID: 41686256).

PP4

At least one proband harboring this variant exhibits a phenotype including Cone dystrophy (1), 2nd decade onset (1), abnormal color vision (0.5), decreased central vision acuity (0.5), ERG absent (0), pigmentary retinopathy (0.5), and macular atrophy (1), which together are specific for RPGR-related retinopathy (4.5 points, PMID: 35806195, PP4).

PM2_Supporting

This variant is absent from hemizygous individuals in gnomAD v4.1.1 (PM2_Supporting).

PVS1

This is a nonsense variant that introduces a premature stop codon between amino acids 1-1132 that is predicted to either trigger nonsense-mediated decay or to disrupt a critical C-terminal region required for proper glutamylation of RPGR (PVS1, PMID: 36445968)

Curation History

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