ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.540_570dup (p.Cys191fs)

dbSNP: rs1311148380
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383495 SCV001582646 pathogenic Walker-Warburg congenital muscular dystrophy 2023-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys191Profs*78) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 305 amino acid(s) of the FKRP protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Ser385*) have been determined to be pathogenic (PMID: 11592034, 12666124, 12707425, 14742276). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1071118). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 34509255). This variant is present in population databases (no rsID available, gnomAD 0.01%).
Fulgent Genetics, Fulgent Genetics RCV005014531 SCV005647976 likely pathogenic Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2024-04-28 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.