ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) (rs746243052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000294536 SCV000799769 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2018-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725796 SCV000339472 pathogenic not provided 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000817667 SCV000958244 likely pathogenic Dysferlinopathy 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1768 of the DYSF protein (p.Arg1768Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs746243052, ExAC 0.009%). This variant has been observed to be homozygous or in combination with another DYSF variant in several individuals with clinical features of dysferlinopathies (PMID: 27647186, 25783436, 25591676, 17698709, 17070050, 18853459). ClinVar contains an entry for this variant (Variation ID: 286151). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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