ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1800+5G>A

gnomAD frequency: 0.00003  dbSNP: rs373194123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813525 SCV000953887 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-08 criteria provided, single submitter clinical testing This sequence change falls in intron 15 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 (rs373194123, gnomAD 0.008%). 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: 656989). 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 may disrupt the consensus splice site. 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.
Natera, Inc. RCV000813525 SCV002085540 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-02-22 no assertion criteria provided clinical testing

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