ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.579-17T>G

gnomAD frequency: 0.00014  dbSNP: rs368025607
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Total submissions: 2
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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 RCV004999627 SCV005620348 likely benign Autosomal recessive limb-girdle muscular dystrophy 2025-01-09 reviewed by expert panel curation The NM_000231.3: c.579-17T>G variant in SGCG is an intronic variant that occurs in a splice region (+7/-21). The filtering allele frequency for this variant is 0.001937 for the South Asian population in gnomAD v4.1.0 (the lower threshold of the 95% CI of 172/77950 exome chromosomes), which is greater than the ClinGen LGMD VCEP threshold of 0.0009 for BS1, and therefore meets this criterion (BS1). The SpliceAI prediction score for this variant is 0.18, which is greater than the LGMD threshold of 0.05 (BP4, BP7 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 LGMD VCEP (LGMD VCEP specifications version 1.0.0; 01/09/2025): BS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV002187484 SCV002344544 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-09-23 criteria provided, single submitter clinical testing

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