ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.826C>T (p.Gln276Ter)

gnomAD frequency: 0.00003  dbSNP: rs373900644
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755729 SCV000883227 likely pathogenic Short-rib thoracic dysplasia 20 with polydactyly 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Short-rib thoracic dysplasia 7/20 with polydactyly, digenic. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM3 => For recessive disorders, detected in trans with a pathogenic variant (https://www.ncbi.nlm.nih.gov/pubmed/27158779). PVS1-Moderate => PVS1 downgraded in strength to Moderate.
Invitae RCV002532709 SCV003525707 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln276*) in the INTU 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 INTU cause disease. This variant is present in population databases (rs373900644, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 27158779). ClinVar contains an entry for this variant (Variation ID: 504483). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
OMIM RCV000599227 SCV000710808 pathogenic Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 2018-04-02 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.