ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) (rs1788799)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078467 SCV000110323 benign not specified 2017-11-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078467 SCV000303368 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000615932 SCV000407879 benign Niemann-Pick disease type C1 2018-01-12 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078467 SCV000539946 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Mendelics RCV000615932 SCV001140862 benign Niemann-Pick disease type C1 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078467 SCV000152092 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615932 SCV000733766 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000615932 SCV000745713 benign Niemann-Pick disease type C1 2016-04-22 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675572 SCV000801263 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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