Submissions for variant NM_000271.5(NPC1):c.387T>C (p.Tyr129=)

gnomAD frequency: 0.13133  dbSNP: rs12970899

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117827	SCV000203127	benign	not specified	2015-07-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117827	SCV000303386	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625295	SCV000407889	benign	Niemann-Pick disease, type C1	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117827	SCV000539948	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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625295	SCV000744752	benign	Niemann-Pick disease, type C1	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000625295	SCV001730613	benign	Niemann-Pick disease, type C1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625295	SCV001737989	benign	Niemann-Pick disease, type C1	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675583	SCV001886243	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117827	SCV000152095	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625295	SCV000745721	benign	Niemann-Pick disease, type C1	2017-01-06	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675583	SCV000801274	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000625295	SCV001459998	benign	Niemann-Pick disease, type C1	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117827	SCV001924909	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117827	SCV001957929	benign	not specified		no assertion criteria provided	clinical testing