ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.295G>A (p.Val99Met) (rs776733780)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531133 SCV000630837 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 99 of the FKRP protein (p.Val99Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs776733780, ExAC 0.008%). This variant has not been reported in the literature in individuals with FKRP-related disease. ClinVar contains an entry for this variant (Variation ID: 459233). 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: "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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