ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.781G>C (p.Gly261Arg)

dbSNP: rs561169991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325502 SCV001516495 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-02-03 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1025214). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 261 of the FKRP protein (p.Gly261Arg). 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.

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