ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1117G>A (p.Val373Met)

gnomAD frequency: 0.00002  dbSNP: rs782354395
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806516 SCV000946520 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2023-01-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 651204). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is present in population databases (rs782354395, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 373 of the UBA1 protein (p.Val373Met).
CeGaT Center for Human Genetics Tuebingen RCV000999410 SCV001156014 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000806516 SCV003827979 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2021-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258981 SCV003981405 uncertain significance Inborn genetic diseases 2023-05-16 criteria provided, single submitter clinical testing The c.1117G>A (p.V373M) alteration is located in exon 11 (coding exon 10) of the UBA1 gene. This alteration results from a G to A substitution at nucleotide position 1117, causing the valine (V) at amino acid position 373 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.