ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) (rs12478318)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080038 SCV000111932 benign not specified 2013-09-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080038 SCV000309308 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399125 SCV000418557 benign Indifference to pain, congenital, autosomal recessive 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000461431 SCV000559256 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
Mendelics RCV000986924 SCV001136080 likely benign Hereditary sensory and autonomic neuropathy type IIA 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992914 SCV001145512 benign not provided 2018-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282509 SCV001157148 benign none provided 2019-10-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001129274 SCV001288789 benign Paroxysmal extreme pain disorder 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001129275 SCV001288790 benign Primary erythromelalgia 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Broad Institute Rare Disease Group, Broad Institute RCV000399125 SCV001435133 likely benign Indifference to pain, congenital, autosomal recessive criteria provided, single submitter research The p.Met932Leu variant in SCN9A has been identified in at least 2 Chinese individuals with partial congenital indifference to pain (PMID: 21939494). This variant is classified as likely benign for partial congenital indifference to pain because it has been identified in >23% of Latino chromosomes and 387 total homozygotes by ExAC (http://gnomad.broadinstitute.org/).
GeneDx RCV000992914 SCV001839022 benign not provided 2018-11-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27956748, 23895530, 25585270, 22803682, 25556685, 25250524, 21698661, 26284228, 27535533, 21939494, 23450472)
Genetic Services Laboratory, University of Chicago RCV000080038 SCV000152670 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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