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_000350.3:c.2488G>T

CA341276980

4538553 (ClinVar)

Gene: ABCA4 (HGNC:24)

Condition: ABCA4-related retinopathy (MONDO:0800406)

Inheritance Mode: Autosomal recessive inheritance

UUID: 8007486e-4071-4423-8da8-cd003542683e

Approved on: 2026-08-25

Published on: 2026-08-25

HGVS expressions

NM_000350.3:c.2488G>T

NC_000001.11:g.94055210C>A

CM000663.2:g.94055210C>A

NC_000001.10:g.94520766C>A

CM000663.1:g.94520766C>A

NC_000001.9:g.94293354C>A

NG_009073.1:g.70940G>T

ENST00000370225.4:c.2488G>T

ENST00000649773.1:c.2266G>T

ENST00000370225.3:c.2488G>T

ENST00000536513.5:c.-65+7964G>T

NM_000350.2:c.2488G>T

Pathogenic

PM3_Supporting PM2_Supporting PVS1

PS4

Evidence Links 0

Expert Panel

ABCA4 VCEP

Criteria Specification Information

Criteria Specification: ClinGen ABCA4 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ABCA4 Version 1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ABCA4 VCEP

NM_000350.3(ABCA4):c.2488G>T; p.Glu830Ter variant in ABCA4 is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 16 of 50 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from gnomAD v4.1.1 (PM2_Supporting). This variant has been reported in at least one proband affected with Stargardt disease meeting PS4_Supporting (PMID: 32619608). In summary, this variant meets the criteria to be classified as pathogenic for ABCA4-related retinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen ABCA4 VCEP (Specification Version 1.0), as specified by the ClinGen ABCA4 Variant Curation Expert Panel: PVS1, PM3_Supporting, PM2_Supporting.

PM3_Supporting

Patient MD-0769: STGD1, onset at 41 years, compound het c.2023G>A p.(Val675Ile) and c.2488G>T p.(Glu830*). No segregation. Phase unconfirmed. PM3 = 0.5 pts.

PM2_Supporting

This variant is absent from gnomAD v4.1.0 (PM2_Supporting).

PVS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS4

This variant is listed in Cornelis et al. 2022 with a confidence interval that contains 1. PS4 is not met.

Curation History

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