ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.249A>G (p.Thr83=)

dbSNP: rs565862702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen RCV004999222 SCV005620304 likely benign Autosomal recessive limb-girdle muscular dystrophy 2025-01-09 reviewed by expert panel curation The NM_000232.5: c.249A>G p.(Thr83=) variant in SGCB is a synonymous (silent) variant that is not predicted to influence splicing by SpliceAI (score 0) (BP4, BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0005227 (16/30612 exome alleles) in the East Asian population (PM2_Supporting, BS1, BA1 not met). In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive limb girdle muscular dystrophy based on the ACMG/AMP criteria applied, as specified by the ClinGen LGMD VCEP (LGMD VCEP specifications version 1.0.0; 01/09/2025): BP4, BP7.
Eurofins Ntd Llc (ga) RCV000399290 SCV000337751 uncertain significance not provided 2016-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059163 SCV002400564 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-28 criteria provided, single submitter clinical testing

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