ClinVar Miner

Submissions for variant NC_000004.11:g.(?_178363383)_(178363529_?)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 RCV004580704 SCV005064728 pathogenic Aspartylglucosaminuria 2023-10-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the AGA gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371). This variant has not been reported in the literature in individuals affected with AGA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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