ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.221T>C (p.Leu74Pro) (rs111033663)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723459 SCV000700444 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000003799 SCV001437257 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-09-24 criteria provided, single submitter clinical testing Variant summary: GALT c.221T>C (p.Leu74Pro) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, N-terminal domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251302 control chromosomes. c.221T>C has been reported in the literature in at least one individual affected with Galactosemia (Reichardt_1992). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Reichardt_1992, McCorvie_2013). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV000003799 SCV000023964 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1992-06-23 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000003799 SCV000042745 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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