ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro)

gnomAD frequency: 0.00001  dbSNP: rs1001356986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730616 SCV000858367 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV001855643 SCV002186873 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-05-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CAPN3 protein function. ClinVar contains an entry for this variant (Variation ID: 595147). This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 25135358). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 205 of the CAPN3 protein (p.Leu205Pro).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000730616 SCV004099268 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing PP3

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