ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2138A>C (p.Asn713Thr)

dbSNP: rs886044264
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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) RCV000304626 SCV000344201 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV003631113 SCV004509332 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 713 of the CAPN3 protein (p.Asn713Thr). This variant is not present in population databases (gnomAD no frequency). 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: 289785). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.

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