ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) (rs794727228)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175459 SCV000226941 uncertain significance not provided 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000703953 SCV000832883 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 653 of the POMT2 protein (p.Pro653Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous state or in combination with another POMT2 variant in individuals with clinical features of congenital muscular dystrophy and has been observed to segregate with disease in a family (Invitae). ClinVar contains an entry for this variant (Variation ID: 194966). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000175459 SCV001149278 uncertain significance not provided 2018-05-01 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.