ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1397G>A (p.Arg466His)

gnomAD frequency: 0.00001  dbSNP: rs763422045
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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 RCV000692318 SCV000820133 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 466 of the FKRP protein (p.Arg466His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 571231). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Eurofins Ntd Llc (ga) RCV000728230 SCV000855776 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388238 SCV002697135 uncertain significance Cardiovascular phenotype 2022-12-09 criteria provided, single submitter clinical testing The p.R466H variant (also known as c.1397G>A), located in coding exon 1 of the FKRP gene, results from a G to A substitution at nucleotide position 1397. The arginine at codon 466 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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.
Natera, Inc. RCV001830507 SCV002091351 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-02-07 no assertion criteria provided clinical testing

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