Submissions for variant NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)

dbSNP: rs55724504

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192877	SCV000248266	uncertain significance	not specified	2014-06-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532367	SCV000650848	benign	Niemann-Pick disease, type C1	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192877	SCV000700540	likely benign	not specified	2016-09-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000532367	SCV000744739	likely benign	Niemann-Pick disease, type C1	2017-06-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000532367	SCV001282152	uncertain significance	Niemann-Pick disease, type C1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000675555	SCV001502261	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	NPC1: BP4, BP7
Ambry Genetics	RCV002453707	SCV002616644	likely benign	Inborn genetic diseases	2022-03-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003891763	SCV000303382	benign	NPC1-related disorder	2021-02-01	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000532367	SCV000745693	likely benign	Niemann-Pick disease, type C1	2016-04-22	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675555	SCV000801246	likely benign	not provided	2017-11-13	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000532367	SCV001463697	benign	Niemann-Pick disease, type C1	2020-01-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000192877	SCV001922294	benign	not specified		no assertion criteria provided	clinical testing