ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) (rs398123807)

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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 RCV000080333 SCV000112228 uncertain significance not provided 2012-09-04 criteria provided, single submitter clinical testing
Invitae RCV000696449 SCV000825012 uncertain significance Dysferlinopathy 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 286 of the DYSF protein (p.Val286Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DYSF variant in individuals affected with limb-girdle muscular dystrophy, Miyoshi myopathy, and dysferlinopathy (PMID: 18832576, 25493284). ClinVar contains an entry for this variant (Variation ID: 94365). 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, 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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