ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)

dbSNP: rs1018529334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004989 SCV001164543 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2018-12-03 criteria provided, single submitter research The homozygous p.Gly93Ala variant in SGCB was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies and computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly93Ala variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).
Revvity Omics, Revvity RCV001004989 SCV004238651 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-10-02 criteria provided, single submitter clinical testing

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