ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) (rs35297901)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000356959 SCV000336402 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366269 SCV000431761 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271598 SCV000431762 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000695150 SCV000823632 uncertain significance Dysferlinopathy 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 808 of the DYSF protein (p.Arg808Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs35297901, ExAC 0.05%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 283977). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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