ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)

dbSNP: rs80338802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808148 SCV000948242 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-02-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 769 of the CAPN3 protein (p.Arg769Pro). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with eosinophilic myositis or myopathy (PMID: 16607617, 25987458). ClinVar contains an entry for this variant (Variation ID: 652571). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts the p.Arg769 amino acid residue in CAPN3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7720071, 20517216). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Baylor Genetics RCV003461179 SCV004213733 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-01-04 criteria provided, single submitter clinical testing

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