ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) (rs750041378)

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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 RCV000383820 SCV000344589 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000460118 SCV000548514 uncertain significance Walker-Warburg congenital muscular dystrophy 2017-04-25 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 211 of the FKRP protein (p.Ser211Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases at a very low frequency (rs750041378, ExAC 0.03%) but has not been reported in the literature in individuals with an FKRP-related disease. ClinVar contains an entry for this variant (Variation ID: 290094). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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