ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309402 SCV002603213 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-03-31 criteria provided, single submitter clinical testing NM_000337.5(SGCD):c.208_210delCTGinsGT(L70Vfs*8) is expected to be pathogenic in the context of delta-sarcoglycanopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SGCD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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