ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) (rs762370550)

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 RCV000517512 SCV000613777 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727195 SCV000706543 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000798006 SCV000937598 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 93 of the ISPD protein (p.Ile93Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs762370550, ExAC 0.03%). This variant has not been reported in the literature in individuals with ISPD-related disease. ClinVar contains an entry for this variant (Variation ID: 447580). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.