Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671771 | SCV000796790 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996950 | SCV001151963 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001222193 | SCV001394283 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with arginine at codon 489 of the FKRP protein (p.Leu489Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 19917824). ClinVar contains an entry for this variant (Variation ID: 555862). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |