ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)

gnomAD frequency: 0.00008  dbSNP: rs149969786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171232 SCV000221429 likely pathogenic not provided criteria provided, single submitter research
Invitae RCV000644992 SCV000766728 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 777 of the CAPN3 protein (p.Ile777Val). This variant is present in population databases (rs149969786, gnomAD 0.02%). This missense change has been observed in individual(s) with distal posterior limb muscle atrophy and weakness (PMID: 27671536). ClinVar contains an entry for this variant (Variation ID: 191056). 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 not expected to disrupt CAPN3 protein function. 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.
Counsyl RCV000644992 SCV000800486 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-01-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000171232 SCV000860850 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000644992 SCV001456377 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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