ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.390del (p.Ala131fs) (rs397517921)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041405 SCV000065100 likely pathogenic Neuromuscular Diseases 2012-02-23 criteria provided, single submitter clinical testing The Ala131fs variant (SGCD) has not been previously reported but has been identi fied by our laboratory in 1 individual with DCM without skeletal muscle involvem ent who carried other likely disease causing DCM variants. This variant is predi cted to cause a frameshift, which alters the protein's amino acid sequence begin ning at codon 131 and leads to a premature stop codon 2 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein (loss of function, LOF). Homozygous LOF variants in the SGCD gene have been reported in autosomal recessive Limb-Girdle muscular dystrophy (LGMD; OMIM, Human Gene Mu tation Database). The clinical significance of a heterozygous LOF variant for D CM in the absence of muscular dystrophy is unknown.

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