ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)

gnomAD frequency: 0.00001  dbSNP: rs901764287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595690 SCV000700924 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing
Invitae RCV002532362 SCV003459936 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 121 of the CAPN3 protein (p.Ile121Met). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with CAPN3-related conditions (PMID: 32528171). ClinVar contains an entry for this variant (Variation ID: 496977). 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 C0"). 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.

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