ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) (rs755588907)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000376960 SCV000343842 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000473686 SCV000548510 uncertain significance Walker-Warburg congenital muscular dystrophy 2016-05-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 132 of the FKRP protein (p.Gly132Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a FKRP-related disease. However, other amino acid substitutions surrounding this position have been reported in patients (http://www.dmd.nl/nmdb/home.php?select_db=FKRP). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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