ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.919_921del (p.Cys307del)

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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 RCV002466749 SCV002525924 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-06-14 no assertion criteria provided clinical testing We investigated an 11 years old Moroccan child. She presented muscle weakness and cramps. Her serum creatine kinase (CK) level was increased from normal range. Electromyography (EMG) showed a myogenic pattern in muscles of upper and lower limbs. NGS sequencing identified a novel variant: NM_000232.5(SGCB):c.917_919delGCT. This variant has not been previously reported in databases and it is classified as likely pathogenic on American College of Medical Genetics and Genomics (ACMG) according to these criteria: PM2, PM4, PP3.

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