ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)

gnomAD frequency: 0.00011  dbSNP: rs753297636
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000283493 SCV000340388 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Invitae RCV000820298 SCV000961006 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 205 of the FKRP protein (p.Arg205Gly). This variant is present in population databases (rs753297636, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 286820). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002356388 SCV002654442 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The p.R205G variant (also known as c.613C>G), located in coding exon 1 of the FKRP gene, results from a C to G substitution at nucleotide position 613. The arginine at codon 205 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002504004 SCV002816852 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000283493 SCV003832656 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000283493 SCV004225413 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001275314 SCV001460338 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2019-10-28 no assertion criteria provided clinical testing

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