ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+8dup (rs3837910)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174229 SCV000225495 benign not specified 2014-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000174229 SCV000565329 benign not specified 2015-04-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000603925 SCV000743486 likely benign Niemann-Pick disease type C1 2016-11-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000603925 SCV000744747 benign Niemann-Pick disease type C1 2015-09-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000174229 SCV000919895 benign not specified 2018-01-25 criteria provided, single submitter clinical testing Variant summary: The NPC1 c.1947+16dupG variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 803/5008 control chromosomes at a frequency of 0.1603435 (in the 1000 Genomes Project), which is approximately 60 times the estimated maximal expected allele frequency of a pathogenic NPC1 variant (0.0027735), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603925 SCV000733763 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603925 SCV000733764 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000603925 SCV000745709 benign Niemann-Pick disease type C1 2016-05-09 no assertion criteria provided clinical testing

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