ClinVar Miner

Submissions for variant NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003041325 SCV003442518 pathogenic Acyl-CoA oxidase deficiency 2023-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr597*) in the ACOX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACOX1 are known to be pathogenic (PMID: 8040306, 17458872). This variant is present in population databases (rs769644289, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with peroxisomal acyl-CoA oxidase deficiency (PMID: 17458872). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475498 SCV004211477 likely pathogenic Mitchell syndrome 2022-05-18 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003041325 SCV004244476 likely pathogenic Acyl-CoA oxidase deficiency 2023-11-08 criteria provided, single submitter clinical testing PVS1, PM2

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