ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) (rs1553522164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673958 SCV000799220 uncertain significance Limb-girdle muscular dystrophy, type 2B 2018-04-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730157 SCV000857872 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000779333 SCV000915924 uncertain significance Dysferlinopathy 2018-10-15 criteria provided, single submitter clinical testing The DYSF c.851T>C (p.Ile284Thr) variant is a missense variant that has been identified in a compound heterozygous state with a nonsense variant in one individual with limb girdle muscular dystrophy and who also carried a third variant of unknown significance (Krahn et al. 2009). A muscle biopsy from this individual showed absent dysferlin expression. The p.Ile284Thr variant was absent from 200 controls and is not reported in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite being found in a region of good sequencing coverage. It is therefore presumed to be rare. A minigene assay showed the p.Ile284Thr variant does not affect splicing (Kergourlay et al. 2014), but other potential functional consequences have not been categorized. Based on the limited evidence available, the p.Ile284Thr 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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