ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) (rs780134612)

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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 RCV000598301 SCV000707590 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV000822828 SCV000963645 uncertain significance Dysferlinopathy 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1151 of the DYSF protein (p.Arg1151His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs780134612, ExAC 0.01%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 501286). 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.

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