Submissions for variant NM_000271.5(NPC1):c.1608G>A (p.Thr536=)

gnomAD frequency: 0.00004  dbSNP: rs372770463

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000908446	SCV001053211	likely benign	Niemann-Pick disease, type C1	2024-10-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004028589	SCV005034244	likely benign	Inborn genetic diseases	2023-02-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV004569811	SCV005050795	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	NPC1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003895527	SCV004714281	likely benign	NPC1-related disorder	2022-03-01	no assertion criteria provided	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).