Submissions for variant NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)

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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	RCV000723483	SCV000110074	pathogenic	not provided	2013-04-19	criteria provided, single submitter	clinical testing
Invitae	RCV000555777	SCV000631391	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2017-06-27	criteria provided, single submitter	clinical testing	This sequence change deletes 3 nucleotide and inserts 3 nucleotides in exon 8 of the GALT mRNA (c.790_792invCTA), creating a premature translational stop signal (p.Leu264*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This particular variant has been reported in the literature in several individuals affected with galactosemia (PMID: 11754113, 11261429, Invitae). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America	RCV000555777	SCV000695704	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2017-08-11	criteria provided, single submitter	clinical testing	Variant summary: The GALT c.790_792delinsTAG (p.Leu264X) variant involves the alteration of 3 nucleotides that results in a nonsense change after amino acid 264. MutationTaster predicts a damaging outcome for this variant. This variant is absent in 121334 control chromosomes (ExAC). The variant has been found in at least 2 patients, one of which was likely homozygous for the variant. In addition, two clinical diagnostic laboratories have classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic.
Research and Development, ARUP Laboratories	RCV000555777	SCV000055335	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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