ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr)

dbSNP: rs1008776680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057234 SCV001221717 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 701 of the CAPN3 protein (p.Ile701Thr). This variant is not present in population databases (gnomAD no frequency). 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: 852590). 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 with a positive predictive value of 80%. 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 RCV002497430 SCV002775424 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-08-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001057234 SCV002085549 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-01 no assertion criteria provided clinical testing

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