ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) (rs144598063)

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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 RCV000361984 SCV000340295 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Counsyl RCV000665677 SCV000789836 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV000693473 SCV000821344 uncertain significance Dysferlinopathy 2018-02-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1041 of the DYSF protein (p.Arg1041Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs144598063, ExAC 0.03%). This variant has been reported in the homozygous state in an individual affected with Miyoshi myopathy (PMID: 15469449). ClinVar contains an entry for this variant (Variation ID: 286743). 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.
Illumina Clinical Services Laboratory,Illumina RCV000693473 SCV000914940 uncertain significance Dysferlinopathy 2017-04-27 criteria provided, single submitter clinical testing The DYSF c.3121C>T (p.Arg1041Cys) variant has been reported in one study and is found in one patient with Miyoshi muscular dystrophy in a homozygous state (Kawabe et al. 2004). The p.Arg1041Cys variant was absent from 120 control chromosomes and is reported at a frequency of 0.00047 in the European American population of the Exome Sequencing Project. Based on the evidence, the p.Arg1041Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for dysferlinopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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