ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.400del (p.Trp134fs) (rs111033689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756198 SCV000883932 pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing The GALT c.400delT;p.Trp134fs variant is reported in the medical literature in several individuals, including individuals with classic galactosemia (Bosch 2005, Tyfield 1999, Viggiano 2015). The variant is listed in the ClinVar database (Variation ID: 25171) and in the dbSNP variant database (rs111033689) but not described in the general population-based databases (Exome Variant Server, Genome Aggregation Database). This variant deletes one nucleotide, creating a frameshift, and is predicted to result in a truncated protein or mRNA subject to non-sense mediated decay. Considering available information, this variant is classified as pathogenic. References: Bosch AM et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005 May;25(5):502. Tyfield L et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13(6):417-30. Viggiano E et al. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. Gene. 2015 Apr 1;559(2):112-8.
Research and Development, ARUP Laboratories RCV000022104 SCV000042780 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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