ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.1-3C>T

gnomAD frequency: 0.00005  dbSNP: rs373335254
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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 RCV004997563 SCV005620343 likely benign Autosomal recessive limb-girdle muscular dystrophy 2025-01-08 reviewed by expert panel curation The NM_000231.3: c.1-3C>T variant is an intronic SGCG variant that is located in a splice region. The computational splicing predictor SpliceAI gives a score of 0.02 for acceptor loss, suggesting that the variant has no impact on splicing since it does not exceed the designated LGMD VCEP threshold (≤0.05) (BP4). The highest minor allele frequency of this variant is 0.0003793 (6/15820 exome chromosomes) in the African/African American population in gnomAD v2.1.1, which is greater than the ClinGen LGMD threshold (≤0.00009) for PM2_Supporting, and therefore does not meet this criterion (PM2_Supporting, BA1, BS1 criteria 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 Limb-Girdle Muscular Dystrophy VCEP (LGMD VCEP specifications version 1.0.0; 01/08/2025): BP4.
Athena Diagnostics RCV000992969 SCV001145597 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001272915 SCV002776529 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2021-11-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272915 SCV001455339 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-09-16 no assertion criteria provided clinical testing

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