ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)

gnomAD frequency: 0.00006  dbSNP: rs541580127
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001123902 SCV001282789 uncertain significance Deficiency of galactokinase 2018-01-12 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.
Myriad Genetics, Inc. RCV001123902 SCV002060079 uncertain significance Deficiency of galactokinase 2021-10-20 criteria provided, single submitter clinical testing NM_000154.1(GALK1):c.742C>T(R248W) is a missense variant classified as a variant of uncertain significance in the context of galactokinase deficiency. R248W has been observed in cases with relevant disease (PMID: 27307692, 29770612). Functional assessments of this variant are not available in the literature. R248W has been observed in population frequency databases (gnomAD: EAS 0.06%). In summary, there is insufficient evidence to classify NM_000154.1(GALK1):c.742C>T(R248W) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.