ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.*8G>A (rs370285476)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506085 SCV000603801 uncertain significance not specified 2017-03-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000506085 SCV000695681 uncertain significance not specified 2019-05-28 criteria provided, single submitter clinical testing Variant summary: GALT c.*8G>A is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.00069 in 251154 control chromosomes, predominantly within the Latino subpopulation at a frequency of 0.0022 in the gnomAD database. This frequency is not higher than expected for a pathogenic variant in GALT causing Galactosemia (0.0022 vs. 0.0029), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.*8G>A in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001168795 SCV001331421 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001276338 SCV001462510 uncertain significance Galactosemia 2018-06-30 no assertion criteria provided clinical testing

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