Submissions for variant NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)

dbSNP: rs145362908

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000598092	SCV000704761	uncertain significance	not provided	2018-03-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000688651	SCV000816273	likely benign	Niemann-Pick disease, type C1	2025-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000688651	SCV000896684	uncertain significance	Niemann-Pick disease, type C1	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000688651	SCV001282243	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	RCV000598092	SCV001371368	uncertain significance	not provided	2020-06-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000688651	SCV001528303	uncertain significance	Niemann-Pick disease, type C1	2018-04-11	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000688651	SCV006053405	uncertain significance	Niemann-Pick disease, type C1	2022-02-17	criteria provided, single submitter	research
Natera, Inc.	RCV000688651	SCV001455863	likely benign	Niemann-Pick disease, type C1	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935608	SCV004751689	likely benign	NPC1-related disorder	2022-02-10	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).