ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) (rs1553416039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677684 SCV000803827 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826104 SCV000967612 likely pathogenic Qualitative or quantitative defects of dysferlin 2018-09-07 criteria provided, single submitter clinical testing The p.Ile1884LeufsX121 variant in DYSF has not been reported in affected individ uals or large population studies. This variant is predicted to cause a frameshif t, which alters the protein?s amino acid sequence beginning at position 1884 and leads to a premature termination codon 121 amino acids downstream. This alterat ion is then predicted to lead to a truncated or absent protein. Biallelic loss o f function of the DYSF gene has been associated with limb-girdle muscular dystro phy type 2B or Miyoshi myopathy (dysferlinopathies). In summary, although additi onal studies are required to fully establish its clinical significance, the p.Il e1884LeufsX121 variant in DYSF is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2.

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