ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)

gnomAD frequency: 0.00022  dbSNP: rs199718635
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000263922 SCV000337594 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000644993 SCV000766729 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 197 of the CAPN3 protein (p.Arg197Cys). This variant is present in population databases (rs199718635, gnomAD 0.03%). This missense change has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 284813). 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"). 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.
Fulgent Genetics, Fulgent Genetics RCV002494842 SCV002788298 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-05-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000263922 SCV003828920 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957432 SCV004769431 uncertain significance CAPN3-related condition 2024-01-09 criteria provided, single submitter clinical testing The CAPN3 c.589C>T variant is predicted to result in the amino acid substitution p.Arg197Cys. This variant was reported in the heterozygous state in an individual with limb girdle muscular dystrophy and was considered as a variant of uncertain significance (Nallamilli et al 2018. PubMed ID: 30564623, Table S7). This variant is reported in 0.028% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000644993 SCV001461310 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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