ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)

gnomAD frequency: 0.00015  dbSNP: rs143205855
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594495 SCV000702479 benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000871088 SCV001012688 likely benign Niemann-Pick disease, type C1 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000871088 SCV001284698 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV000871088 SCV002804842 likely benign Niemann-Pick disease, type C1 2021-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925773 SCV004738041 likely benign NPC1-related disorder 2021-05-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724071 SCV001954876 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724071 SCV001967422 uncertain significance not provided no assertion criteria provided clinical testing

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