ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2115+4T>G

dbSNP: rs752436906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481941 SCV000573680 uncertain significance not specified 2017-03-10 criteria provided, single submitter clinical testing The c.2115+4T>G variant in the CAPN3 gene has been reported previously in the homozygous state in a patient with a classic LGMD2A phenotype, however, western blot analysis was not provided and mRNA expression studies were not performed (Nilsson et al., 2014). Splice predictor models are uninformative as the natural splice donor site for intron 19 is too weak to be predicted. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.2115+4T>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2115+4T>G as a variant of uncertain significance.
3billion, Medical Genetics RCV001809442 SCV002058374 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-01-03 criteria provided, single submitter clinical testing It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). In silico prediction tools predicted that this variant influenced pre-mRNA splicing, resulting in aberrant splicing (SPLICEAI: 0.83, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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