ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)

dbSNP: rs772940104
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 RCV000185574 SCV002250805 uncertain significance Aicardi-Goutieres syndrome 3 2021-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu60Glyfs*46) in the RNASEH2C gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RNASEH2C cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RNASEH2C-related conditions. ClinVar contains an entry for this variant (Variation ID: 203392). 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.
Ambry Genetics RCV002519569 SCV003637515 pathogenic Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.178dupG (p.E60Gfs*46) alteration, located in exon 2 (coding exon 2) of the RNASEH2C gene, consists of a duplication of G at position 178, causing a translational frameshift with a predicted alternate stop codon after 46 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185574 SCV000238474 likely pathogenic Aicardi-Goutieres syndrome 3 2015-05-26 no assertion criteria provided research The RNASEH2C variant (c.178dup; p.Glu60Glyfs*46) is considered likely pathogenic because it results in the premature truncation of the transcript, which may be affected by nonsense mediated decay. Another frameshift variant has been reported downstream of this position.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185574 SCV000536915 likely pathogenic Aicardi-Goutieres syndrome 3 2015-05-26 no assertion criteria provided research

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.