ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe) (rs776921154)

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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 RCV000328928 SCV000341256 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing
Invitae RCV000536457 SCV000649746 uncertain significance Dysferlinopathy 2017-02-10 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 289 of the DYSF protein (p.Ser289Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 287473). 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 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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