ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.968G>A (p.Arg323His)

gnomAD frequency: 0.00001  dbSNP: rs1349031936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634072 SCV000755350 pathogenic Walker-Warburg congenital muscular dystrophy 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 323 of the FKRP protein (p.Arg323His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with FKRP-related conditions (PMID: 16368217, 32864802). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 528824). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FKRP protein function. For these reasons, this variant has been classified as Pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662004 SCV000784336 uncertain significance Muscular dystrophy-dystroglycanopathy type B5 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662005 SCV000784337 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-03-05 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000662005 SCV002581887 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2022-08-29 criteria provided, single submitter clinical testing
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001171504 SCV001334159 uncertain significance Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 no assertion criteria provided clinical testing

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