ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)

gnomAD frequency: 0.00001  dbSNP: rs143583537
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243724 SCV001416900 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 493 of the CAPN3 protein (p.Arg493Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs143583537, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg493 amino acid residue in CAPN3. Other variant(s) that disrupt this residue have been observed in individuals with CAPN3-related conditions (PMID: 16141003, 27363342), which suggests that this may be a clinically significant amino acid residue. 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.
Genome-Nilou Lab RCV001580576 SCV001810312 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001243724 SCV001810313 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003145477 SCV003828915 uncertain significance not provided 2022-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243724 SCV002085515 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-03-23 no assertion criteria provided clinical testing

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