ClinVar Miner

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
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.
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.
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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