ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1052del (p.Pro351fs) (rs111033813)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000173648 SCV000485509 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-12-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723535 SCV000224783 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000173648 SCV000919403 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-08-27 criteria provided, single submitter clinical testing Variant summary: GALT c.1052delC (p.Pro351LeufsX8) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.1e-06 in 246230 control chromosomes (gnomAD). The variant, c.1052delC, has been reported in the literature in individuals affected with Galactosemia. These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Research and Development, ARUP Laboratories RCV000173648 SCV000042955 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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