ClinVar Miner

Submissions for variant NC_000009.11:g.(?_34646573)_(34650446_?)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 RCV001972575 SCV002242956 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-11-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GALT gene has been identified. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individuals with galactosemia (PMID: 11286505, 15841485, 17079880). For these reasons, this variant has been classified as Pathogenic.

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