ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)

gnomAD frequency: 0.00001  dbSNP: rs186882839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680013 SCV000807452 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with a nonsense mutation in a newborn female with MRI suggestive of Walker-Warburg, microphthalmia, possible cataract, encephalocele, hypotonia, dysmorhisms
Invitae RCV002544695 SCV003245808 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-06-10 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ISPD mRNA. It is expected to extend the length of the ISPD protein by 28 additional amino acid residues. This variant is present in population databases (rs186882839, gnomAD 0.02%). This protein extension has been observed in individual(s) with Walker-Warburg syndrome (PMID: 22522420, 28973083). ClinVar contains an entry for this variant (Variation ID: 561034). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
3billion RCV003152727 SCV003841363 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.003%). Predicted Consequence/Location: Stop lost variant. The variant has been reported to be associated with CRPPA related disorder (PMID: 22522420, ClinVar ID: VCV000561034.2). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
Daryl Scott Lab, Baylor College of Medicine RCV000680013 SCV004102679 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2023-11-10 criteria provided, single submitter clinical testing

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