ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.184del (p.Val62fs)

dbSNP: rs1048457038
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484862 SCV000572825 likely pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing The c.184delG variant in the ISPD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.184delG variant causes a frameshift starting with codon Valine 62, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Val62SerfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Sufficient sequencing read depth from control individuals in the NHLBI Exome Sequencing Project and Exome Aggregation Consortium data sets was not available to assess whether the c.184delG variant may be a common benign variant in the general population; however, this variant has not been detected at any significant frequency in the internal database at GeneDx. We interpret c.184delG as a likely pathogenic variant.
Eurofins Ntd Llc (ga) RCV000484862 SCV000704194 pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000484862 SCV001155043 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Invitae RCV002525923 SCV003519665 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 423167). This premature translational stop signal has been observed in individual(s) with ISPD-related conditions (PMID: 30564623, 31395954). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Val62Serfs*29) in the ISPD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ISPD are known to be pathogenic (PMID: 23288328).
Revvity Omics, Revvity RCV000484862 SCV003830202 likely pathogenic not provided 2022-12-16 criteria provided, single submitter clinical testing

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.