ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.290A>T (p.Asn97Ile) (rs111033669)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000878 SCV001157959 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-10-26 criteria provided, single submitter clinical testing The GALT c.290A>T; p.Asn97Ile variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The asparagine at codon 97 is highly conserved, is involved in ligand binding (Boutron 2012), and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Other variants at this codon (c.290A>G, p.Asn97Ser; c.289A>G; p.Asn97Asp) have been reported in individuals with galactosemia and are considered pathogenic (Boutron 2012, Shin 2004). Based on available information, the p.Asn97Ile variant is considered to be likely pathogenic. References: Boutron A et al. Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Mol Genet Metab. 2012 Nov;107(3):438-47. Shin YS et al. Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations. Bratisl Lek Listy. 2004;105(9):315-7.

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