ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) (rs145272777)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000374736 SCV000338824 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Counsyl RCV000664874 SCV000788897 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-01-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000374736 SCV000892569 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778917 SCV000915327 uncertain significance Dysferlinopathy 2018-02-13 criteria provided, single submitter clinical testing The DYSF gene is the only gene in which variants are known to cause dysferlinopathy. The DYSF c.5216C>A (p.Pro1739Gln) missense variant has been reported in one study in which it is found in two siblings from a family with a history of dysferlinopathy. The variant was found in a compound heterozygous state with a deletion in one sibling and in a heterozygous state in the other (Jin et al. 2016). Both siblings were found to be negative for dysferlin expression using immunohistochemical analysis of muscle tissue (Jin et al. 2016). Control data are unavailable for this variant, which is reported at a frequency of 0.005924 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the evidence, the p.Pro1739Gln 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.
Invitae RCV000374736 SCV001018414 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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