ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)

gnomAD frequency: 0.00006  dbSNP: rs768950391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000681651 SCV000809098 uncertain significance Infantile cerebellar-retinal degeneration 2018-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868309 SCV002131113 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects ACO2 function (PMID: 30689204). 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. ClinVar contains an entry for this variant (Variation ID: 562210). This missense change has been observed in individual(s) with clinical features of ACO2-related conditions (PMID: 30689204, 32519519). This variant is present in population databases (rs768950391, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 684 of the ACO2 protein (p.Arg684Trp).
Fulgent Genetics, Fulgent Genetics RCV002485573 SCV002792438 uncertain significance Infantile cerebellar-retinal degeneration; Optic atrophy 9 2022-03-01 criteria provided, single submitter clinical testing
OMIM RCV000681651 SCV001432775 pathogenic Infantile cerebellar-retinal degeneration 2020-09-16 no assertion criteria provided literature only

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