ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.740C>G (p.Pro247Arg)

dbSNP: rs528000488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634075 SCV000755353 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 247 of the FKRP protein (p.Pro247Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FKRP-related conditions. 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: "Deleterious"; 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.

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