Submissions for variant NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)

gnomAD frequency: 0.49943  dbSNP: rs1805082

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078474	SCV000110330	benign	not specified	2015-07-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078474	SCV000303374	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020227	SCV000407860	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	RCV000078474	SCV000539944	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	RCV000020227	SCV000744744	benign	Niemann-Pick disease, type C1	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020227	SCV001725529	benign	Niemann-Pick disease, type C1	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020227	SCV001737965	benign	Niemann-Pick disease, type C1	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675563	SCV001836453	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675563	SCV005251289	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020227	SCV000040570	not provided	Niemann-Pick disease, type C1		no assertion provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000078474	SCV000152093	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	RCV000020227	SCV000733759	benign	Niemann-Pick disease, type C1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000020227	SCV000745701	benign	Niemann-Pick disease, type C1	2016-04-22	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675563	SCV000801254	benign	not provided	2015-10-20	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000020227	SCV001455860	benign	Niemann-Pick disease, type C1	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078474	SCV001925932	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078474	SCV001959235	benign	not specified		no assertion criteria provided	clinical testing