ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg)

gnomAD frequency: 0.00004  dbSNP: rs1355979542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217757 SCV001389609 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 694 of the CAPN3 protein (p.Leu694Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 946817). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001217757 SCV002085548 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-06-20 no assertion criteria provided clinical testing

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