ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)

gnomAD frequency: 0.00002  dbSNP: rs921829148
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325181 SCV001516160 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 298 of the FKRP protein (p.Gly298Ala). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1024939). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Ambry Genetics RCV002377416 SCV002687429 uncertain significance Cardiovascular phenotype 2019-03-13 criteria provided, single submitter clinical testing The p.G298A variant (also known as c.893G>C), located in coding exon 1 of the FKRP gene, results from a G to C substitution at nucleotide position 893. The glycine at codon 298 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499638 SCV002816736 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 2021-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830367 SCV002091323 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-01-12 no assertion criteria provided clinical testing

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