ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.619C>T (p.Gln207Ter) (rs111033743)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000022166 SCV000695697 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-03-25 criteria provided, single submitter clinical testing Variant summary: GALT c.619C>T (p.Gln207X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.947G>A, p.Trp316X). The variant allele was found at a frequency of 1.6e-05 in 251584 control chromosomes (gnomAD and publication data). c.619C>T has been reported in the literature in two unrelated individuals affected with Galactosemia, where one patient was carrying it in the homozygous state (Yang 2002, Carney 2009). These patients also carried a milder mutation (Duarte-2 allele) in homozygous state. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723401 SCV000700295 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing
Counsyl RCV000022166 SCV000791700 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-26 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022166 SCV000042848 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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