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

Total submissions: 4

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.