ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.27C>T (p.Leu9=) (rs1974763)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039803 SCV000063492 benign not specified 2012-04-20 criteria provided, single submitter clinical testing Leu9Leu in exon 1 of CAV3: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 12.6% (883/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs1974763).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039803 SCV000114284 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039803 SCV000315208 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000241900 SCV000317409 benign Cardiovascular phenotype 2015-06-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000379199 SCV000446397 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339745 SCV000446399 benign Caveolinopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000397797 SCV000446400 likely benign Limb-Girdle Muscular Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576516 SCV000677236 benign Rippling muscle disease 2; Distal myopathy, Tateyama type 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000284784 SCV001000470 benign Long QT syndrome 2020-12-08 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (CAV3) RCV000024400 SCV000045694 not provided not provided 2012-04-15 no assertion provided curation
Genetic Services Laboratory, University of Chicago RCV000039803 SCV000150544 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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