Total submissions: 4
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, |
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, |
RCV000662005 | SCV000784337 | uncertain significance | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Myelin Disorders Clinic- |
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 |