ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) (rs200049922)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000416052 SCV000337259 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338669 SCV000431769 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393077 SCV000431770 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416052 SCV000493434 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Invitae RCV000531939 SCV000649634 uncertain significance Dysferlinopathy 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 872 of the DYSF protein (p.Glu872Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs200049922, ExAC 0.04%). This variant has not been reported in the literature in individuals with DYSF-related disease. 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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