ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr)

dbSNP: rs148855999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260114 SCV000338779 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV000813122 SCV000953464 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-02-22 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 195 of the CAPN3 protein (p.Asn195Thr). This variant is present in population databases (rs148855999, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of CAPN3-related conditions (PMID: 30564623). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 285651). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV000813122 SCV001461309 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535726 SCV001749827 not provided CAPN3-Related Disorders no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-11-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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