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
Counsyl RCV000022166 SCV000791700 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723401 SCV000700295 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000022166 SCV000695697 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-02-22 criteria provided, single submitter clinical testing Variant summary: This GALT c.619C>T variant results in a premature termination codon 173 amino acids from the end of the protein, predicted to cause a truncated or absent GALT protein. Loss-of-function due to mutations in this gene is an established disease mechanism in classic galactosemia. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Leu264X, p.Trp316X, etc.). This variant was not found in approximately 121382 control chromosomes from ExAC. The variant has been reported from literature in two unrelated patients, one carrying it in homozygous state (Yang_2002, Carney_2009). The homozygous case also carried a mild mutation (Duaret-2 allele) in homozygous state. Multiple reputable databases/labs have classified this variant as pathogenic. Taken together, this is probably a disease variant has currently been classified as likely pathogenic.
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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