ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060502110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467867 SCV000548518 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 28 of the FKRP protein (p.Gln28Glu). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 408722). 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.
Eurofins Ntd Llc (ga) RCV000594457 SCV000702295 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833578 SCV002088928 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-02-26 no assertion criteria provided clinical testing

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