ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val)

dbSNP: rs1584728088
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
GeneDx RCV001560022 SCV001782353 uncertain significance not provided 2020-08-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25698705, 30718709, 26321861)
Labcorp Genetics (formerly Invitae), Labcorp RCV001560022 SCV003440111 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 636038). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 25698705, 30718709). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 321 of the IMPDH1 protein (p.Ala321Val).
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787618 SCV000926602 likely pathogenic Retinitis pigmentosa 2018-04-01 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.