ClinVar Miner

Submissions for variant NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) (rs111033762)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780282 SCV000917424 uncertain significance not specified 2018-12-10 criteria provided, single submitter clinical testing Variant summary: GALT c.779_790del12 (p.His260_Arg263del) results in an in-frame deletion that is predicted to remove four amino acids from the encoded protein. The variant was absent in 245702 control chromosomes. To our knowledge, no occurrence of c.779_790del12 in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Research and Development, ARUP Laboratories RCV000022203 SCV000042885 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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