ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) (rs863225021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201092 SCV000255772 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2015-06-25 criteria provided, single submitter clinical testing
Counsyl RCV000201092 SCV000791027 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-04-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723532 SCV000331251 pathogenic not provided 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV000553055 SCV000649719 likely pathogenic Dysferlinopathy 2017-05-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1693 of the DYSF protein (p.Arg1693Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous or compound heterozygous state in individuals affected with dysferlinopathy (PMID: 16100712, 27066573, 23530687, 27647186, 28403181). ClinVar contains an entry for this variant (Variation ID: 217227). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change that has been reported in affected individuals. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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