ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)

gnomAD frequency: 0.00001  dbSNP: rs1060502106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456630 SCV000548505 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 127 of the FKRP protein (p.Ala127Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 408716). 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.
GeneDx RCV002461191 SCV002757686 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001275310 SCV001460334 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-01-24 no assertion criteria provided clinical testing

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