ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89167090)_(89220615_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003113852 SCV003796944 pathogenic Combined malonic and methylmalonic acidemia 2022-08-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ACSF3 gene has been identified. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletion of ACSF3 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 26827111). For these reasons, this variant has been classified as Pathogenic.

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