ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) (rs80358251)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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,PreventionGenetics RCV000078486 SCV000303391 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283062 SCV000604562 benign none provided 2020-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000020234 SCV000745716 likely benign Niemann-Pick disease type C1 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV000020234 SCV000770850 benign Niemann-Pick disease type C1 2020-12-05 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 Clinical Services Laboratory,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.
Nilou-Genome 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 benign Niemann-Pick disease type C1 2008-07-22 no assertion criteria provided curation Converted during submission to Benign.
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
Human Genetics - Radboudumc,Radboudumc RCV000078486 SCV001956681 benign not specified no assertion criteria provided clinical testing

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