ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) (rs4369876)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080039 SCV000111933 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490436 SCV000267491 uncertain significance Primary erythromelalgia 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000080039 SCV000309312 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490436 SCV000418510 benign Primary erythromelalgia 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000375717 SCV000418511 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284177 SCV000418512 benign Paroxysmal extreme pain disorder 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000389941 SCV000418514 benign Indifference to pain, congenital, autosomal recessive 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV000469131 SCV000559260 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992915 SCV001145513 benign not provided 2018-12-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282508 SCV001157147 benign none provided 2020-04-17 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000490436 SCV001435123 benign Primary erythromelalgia criteria provided, single submitter research The heterozygous p.Val991Leu variant in SCN9A has been identified in an individual suspected to have small fibre neuropathy (PMID: 21698661). In vitro functional studies provide some evidence that the p.Pro124Ser variant will not impact protein function (PMID: 21698661). However, these types of assays may not accurately represent biological function. This variant is classified as benign for autosomal dominant small fibre neuropathy because it has been identified in >20% of Latino chromosomes, including 340 homozygotes, by ExAC (http://gnomad.broadinstitute.org/).
GeneDx RCV000992915 SCV001898274 benign not provided 2018-11-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25585270, 27956748, 26284228, 27535533, 21698661)
Genetic Services Laboratory, University of Chicago RCV000080039 SCV000152672 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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