ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.933+3A>G (rs377582530)

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
Athena Diagnostics Inc RCV000419547 SCV000613778 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000419547 SCV000529676 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000557346 SCV000652594 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2018-07-20 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the ISPD gene. It does not directly change the encoded amino acid sequence of the ISPD protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs377582530, ExAC 0.2%). This variant has not been reported in the literature in individuals with ISPD-related disease. ClinVar contains an entry for this variant (Variation ID: 387587). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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.