ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg)

gnomAD frequency: 0.00001  dbSNP: rs763299165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325619 SCV001516615 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-02-26 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FKRP-related conditions. This variant is present in population databases (rs763299165, ExAC 0.009%). This sequence change replaces glycine with arginine at codon 493 of the FKRP protein (p.Gly493Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Natera, Inc. RCV001831007 SCV002091358 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-10-18 no assertion criteria provided clinical testing

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