Submissions for variant NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)

gnomAD frequency: 0.00373  dbSNP: rs34715591

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000675556	SCV000717989	likely benign	not provided	2020-03-24	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000605744	SCV000744740	benign	Niemann-Pick disease, type C1	2017-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV000605744	SCV001012902	benign	Niemann-Pick disease, type C1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000605744	SCV001283365	benign	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics	RCV002456336	SCV002616210	likely benign	Inborn genetic diseases	2022-06-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605744	SCV000733753	benign	Niemann-Pick disease, type C1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000605744	SCV000745695	likely benign	Niemann-Pick disease, type C1	2017-05-22	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675556	SCV000801247	likely benign	not provided	2017-08-31	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000675556	SCV001921392	likely benign	not provided		no assertion criteria provided	clinical testing