ClinVar Miner

Submissions for variant NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)

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
Ambry Genetics RCV003205457 SCV003901134 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.397C>T (p.R133C) alteration is located in exon 4 (coding exon 3) of the WARS gene. This alteration results from a C to T substitution at nucleotide position 397, causing the arginine (R) at amino acid position 133 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
SIB Swiss Institute of Bioinformatics RCV003223358 SCV004034969 uncertain significance Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 2024-05-13 criteria provided, single submitter curation This variant is interpreted as VUS for Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2_supporting); For recessive disorders, detected in trans with a pathogenic variant (PM3_supporting); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3_supporting); Well-established functional studies show a deleterious effect (PS3_ moderate).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003223358 SCV005016540 uncertain significance Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV003223358 SCV003918833 pathogenic Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 2023-04-19 no assertion criteria provided literature only

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.