Submissions for variant NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)

gnomAD frequency: 0.01055  dbSNP: rs80358251

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078486	SCV000110342	benign	not specified	2015-07-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000020234	SCV000220553	likely benign	Niemann-Pick disease, type C1	2014-08-22	criteria provided, single submitter	literature only
PreventionGenetics, part of Exact Sciences	RCV000078486	SCV000303391	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003638614	SCV000604562	benign	Nasopharyngeal carcinoma	2023-09-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020234	SCV000770850	benign	Niemann-Pick disease, type C1	2024-01-31	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000020234	SCV000803556	benign	Niemann-Pick disease, type C1	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign, for Niemann-Pick disease, type C1, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (PMID:12554680). BS1 => Allele frequency is greater than expected for disorder (PMID:11182931). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Illumina Laboratory Services, Illumina	RCV000020234	SCV001283586	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV000020234	SCV001652757	likely benign	Niemann-Pick disease, type C1	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000675580	SCV001865410	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32222928, 29631617, 28328115, 25842391, 10480349, 20981092, 12955717, 12554680, 22995991, 25497598, 20489167)
GeneReviews	RCV000020234	SCV000040580	not provided	Niemann-Pick disease, type C1		no assertion provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000020234	SCV000745716	likely benign	Niemann-Pick disease, type C1	2017-09-07	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675580	SCV000801271	likely benign	not provided	2018-02-21	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675580	SCV001797516	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078486	SCV001807177	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078486	SCV001921215	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078486	SCV001956681	benign	not specified		no assertion criteria provided	clinical testing