ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)

dbSNP: rs864309499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000202502 SCV000257488 likely pathogenic Infantile cerebellar-retinal degeneration 2013-11-14 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in trans with another missense variant (P712L) in a 2-year-old male with global delays, bilateral sensorineural hearing loss, hypotonia, ataxia, myclonic jerks, dysmorphisms, small arachnoid cyst.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853260 SCV002138442 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 607 of the ACO2 protein (p.Arg607Cys). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of infantile cerebellar-retinal degeneration (PMID: 26992325). ClinVar contains an entry for this variant (Variation ID: 218316). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACO2 protein function with a positive predictive value of 80%. 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.
Department of Medical Genetics, College of Basic Medicine, Army Medical University RCV004703469 SCV004801276 likely pathogenic Optic atrophy 9 criteria provided, single submitter clinical testing
OMIM RCV000202502 SCV002584971 pathogenic Infantile cerebellar-retinal degeneration 2022-10-19 no assertion criteria provided literature only

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