ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.328+2T>C

dbSNP: rs111033849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251268 SCV002521846 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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