Submissions for variant NM_000271.5(NPC1):c.2268C>T (p.Ala756=)

gnomAD frequency: 0.00003  dbSNP: rs536329623

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000930499	SCV001076153	likely benign	Niemann-Pick disease, type C1	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002445052	SCV002733991	likely benign	Inborn genetic diseases	2019-06-10	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.
PreventionGenetics, part of Exact Sciences	RCV003903083	SCV004723668	likely benign	NPC1-related condition	2024-02-23	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579607	SCV001807879	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579607	SCV001965033	likely benign	not provided		no assertion criteria provided	clinical testing