ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) (rs546679270)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665544 SCV000789686 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-02-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727415 SCV000708313 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000727415 SCV000582316 uncertain significance not provided 2017-05-10 criteria provided, single submitter clinical testing The R582L variant has been previously reported in an individual with limb-girdle muscular dystrophy who harbored an additional DYSF variant; however, functional analysis of the R582L variant was not performed (Vincent et al., 2016). The R582L variant is observed in 88/11888 (0.74%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with DYSF-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000403176 SCV000431733 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306031 SCV000431734 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing

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