ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.701del (p.Asp234fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, National Institute of Health RCV002466746 SCV002525875 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-06-14 no assertion criteria provided clinical testing We investigated an eight years old Moroccan consanguineous male, he presented a proximal progressive symmetric muscle weakness with calf hypertrophy. His serum creatine kinase (CK) level was 20 times increased from normal range. Electromyography (EMG) showed a myogenic pattern in muscles of upper and lower limbs. NGS sequencing identified a novel variant: NM_000023.4(SGCA):c.701delA. This variant has not been previously reported in databases and confirms the diagnosis of a Muscular dystrophy type 2D. It is classified as likely pathogenic on American College of Medical Genetics and Genomics (ACMG) according to these criteria: PVS1 and PM2.

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