Submissions for variant NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp)

gnomAD frequency: 0.00001  dbSNP: rs61752412

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085551	SCV003268440	uncertain significance	not provided	2025-01-13	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1055 of the ABCA4 protein (p.Arg1055Trp). This variant is present in population databases (rs61752412, gnomAD 0.06%). This missense change has been observed in individual(s) with retinitis pigmentosa and/or Stargardt disease (PMID: 11385708, 19265867, 34315337). ClinVar contains an entry for this variant (Variation ID: 99200). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003992182	SCV004810218	uncertain significance	Severe early-childhood-onset retinal dystrophy	2024-04-04	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004815100	SCV005069845	uncertain significance	Retinal dystrophy	2022-01-01	criteria provided, single submitter	clinical testing
Retina International	RCV000085551	SCV000117688	not provided	not provided		no assertion provided	not provided