ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.299G>A (p.Arg100His)

gnomAD frequency: 0.00001  dbSNP: rs1174581828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241329 SCV001414342 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-19 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 100 of the FKRP protein (p.Arg100His). This variant is not present in population databases (gnomAD no frequency). 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: 966605). 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 histidine 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481018 SCV004225412 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001836210 SCV002088943 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-09-11 no assertion criteria provided clinical testing

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