ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.312+19A>C

gnomAD frequency: 0.00001  dbSNP: rs527959287
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Total submissions: 4
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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 RCV004999413 SCV005620264 likely benign Autosomal recessive limb-girdle muscular dystrophy 2025-01-09 reviewed by expert panel curation The NM_000023.4: c.312+19A>C variant in SGCA is an intronic variant that does not occur in a splice region (+7/-21). The filtering allele frequency for this variant is 0.0009193 for the South Asian population in gnomAD v4.1.0 (the lower threshold of the 95% CI of 94/85460 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 0.19, which is greater than the VCEP 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.
GeneDx RCV000426975 SCV000530321 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063398 SCV002346625 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-10-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063398 SCV003931654 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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