ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1524+3G>A

gnomAD frequency: 0.00004  dbSNP: rs374188055
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323990 SCV000340091 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197710 SCV001368489 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2020-02-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519240 SCV002979670 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-05-25 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the CAPN3 gene. It does not directly change the encoded amino acid sequence of the CAPN3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs374188055, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 286600). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155150 SCV003844521 uncertain significance not specified 2023-02-11 criteria provided, single submitter clinical testing

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