ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) (rs1801505)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175518 SCV000227011 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175518 SCV000301885 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000175518 SCV000518289 benign not specified 2016-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081639 SCV000645500 benign Limb-girdle muscular dystrophy, type 2A 2020-11-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000175518 SCV000711704 benign not specified 2017-03-06 criteria provided, single submitter clinical testing p.Glu107Lys in exon 2 of CAPN3: This variant is not expected to have clinical si gnificance because it has been identified in 2.8% (188/66736) of European (Finni sh) chromosomes including 2 homozygotes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org; dbSNP rs150616566)
Athena Diagnostics Inc RCV000711020 SCV000841338 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081639 SCV001274228 benign Limb-girdle muscular dystrophy, type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001081639 SCV001456716 benign Limb-girdle muscular dystrophy, type 2A 2020-01-13 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000175518 SCV001797572 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000711020 SCV001932207 likely benign not provided no assertion criteria provided clinical testing

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