ClinVar Miner

Submissions for variant NC_000009.12:g.(?_34646609)_(34650459_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795441 SCV000934905 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-01-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing the majority of exons 1-11 of the GALT gene, though a small portion of exon 8 is retained. It is expected to result in an absent or disrupted protein product. This particular deletion has been reported in individuals affected with galactosemia (PMID: 17079880), and other deletions of the entire GALT sequence have also been reported in affected individuals (PMID: 15841485, 11286505). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic.

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