ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.172C>T (p.Arg58Ter)

gnomAD frequency: 0.00001  dbSNP: rs751460831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857291 SCV002245666 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 441075). This premature translational stop signal has been observed in individual(s) with ACO2-related conditions (PMID: 30689204). This variant is present in population databases (rs751460831, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg58*) in the ACO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACO2 are known to be pathogenic (PMID: 30689204, 32519519).
GenomeConnect, ClinGen RCV000509125 SCV000607164 not provided ACO2-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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