ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) (rs121908955)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000080320 SCV000321574 pathogenic not provided 2020-04-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18832576, 16996541, 9731526, 25574751, 18974570, 17994539, 18853459, 17698709, 27290639, 27666772, 19493611, 16100712, 17070050, 21522182, 31589614, 33250842, 32528171)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080320 SCV000333451 pathogenic not provided 2015-08-04 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000007052 SCV000803828 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV000815134 SCV000955580 pathogenic Qualitative or quantitative defects of dysferlin 2020-10-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2042 of the DYSF protein (p.Arg2042Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs121908955, ExAC 0.009%). This variant has been observed in individual(s) with limb-girdle muscular dystrophy and Miyoshi myopathy (PMID: 16100712, 17698709, 22194990, 25574751, 27666772). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 6668). This variant has been reported to affect DYSF protein function (PMID: 27641898). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007051 SCV000027247 pathogenic Miyoshi muscular dystrophy 1 1998-09-01 no assertion criteria provided literature only
Counsyl RCV000007052 SCV000789624 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-02-08 no assertion criteria provided clinical testing
OMIM RCV000007052 SCV000809052 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 1998-09-01 no assertion criteria provided literature only
Natera, Inc. RCV000007052 SCV001457860 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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