ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) (rs145649423)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000174173 SCV000150452 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174173 SCV000225428 likely benign not specified 2015-02-27 criteria provided, single submitter clinical testing
Invitae RCV001082147 SCV000259514 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000174173 SCV000278907 likely benign not specified 2018-02-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000300263 SCV000372861 likely benign Congenital generalized lipodystrophy type 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000357438 SCV000372862 likely benign Distal hereditary motor neuronopathy type 5 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000116504 SCV000493255 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664139 SCV000787591 benign Monogenic diabetes 2018-08-10 criteria provided, single submitter research ACMG criteria: BS1 (0.7% in gnomAD AJ population, 0.3% overall MAF in gnomAD; disease prevalence 1:10 million gives MAF of 0.03%), BS2 (3 homozygotes in gnomAD ENF pop) [REVEL 0.257, PP3 (4 predictors), BP4 (6 predictors)= conflicting evidence, not using]= benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000116504 SCV000885126 likely benign not provided 2017-07-14 criteria provided, single submitter clinical testing The p.Leu363Pro variant (rs145649423) has not been reported in the medical literature and is listed in the ClinVar database as benign/likely benign (Variation ID: 128532). The variant is listed in the Genome Aggregation Database (gnomAD) with a frequency in European Non-Finnish populations of 0.5 percent (identified on 641 out of 126,542 chromosomes, including 3 homozygotes). Altogether the p.Leu363Pro variant is likely benign.
Athena Diagnostics Inc RCV000116504 SCV001145759 benign not provided 2019-01-28 criteria provided, single submitter clinical testing

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