ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.466G>A (p.Val156Met)

gnomAD frequency: 0.00001  dbSNP: rs765402738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230805 SCV000290698 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 156 of the FKRP protein (p.Val156Met). This variant is present in population databases (rs765402738, gnomAD 0.005%). 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: 241457). 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: "Probably 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.
Eurofins Ntd Llc (ga) RCV000306319 SCV000343577 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing

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