ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.968G>A (p.Arg323His) (rs1349031936)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634072 SCV000755350 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 323 of the FKRP protein (p.Arg323His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in the homozygous state in an individual affected with muscular dystrophy (PMID: 16368217). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662004 SCV000784336 uncertain significance Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662005 SCV000784337 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2018-03-05 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 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 no assertion criteria provided clinical testing

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