ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003307365 SCV004009559 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2023-07-07 criteria provided, single submitter clinical testing The novel heterozygous variant c.5195G>C (p.Arg1732Pro) has been identified in a proband with history of progressive lower limb weakness, unable to walk on toes, upper limb weakness, gower sign positive, truncal muscle weakness and EMG-myopathy. The elder sister also has similar history. This variant has not been found in gnomAD (aggregated) database (PM2_moderate). In-silico prediction tools predict this variant to have a deleterious effect (PP3_strong). A different amino acid change is known as a pathogenic variant (PM5_supporting).

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