ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) (rs187453572)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723961 SCV000225304 uncertain significance not provided 2015-09-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388718 SCV000418694 likely benign Paroxysmal extreme pain disorder 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000277449 SCV000418695 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290806 SCV000418698 likely benign Indifference to pain, congenital, autosomal recessive 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000348148 SCV000418699 likely benign Primary erythromelalgia 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000468717 SCV000548352 likely benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000723961 SCV000617190 uncertain significance not provided 2021-04-28 criteria provided, single submitter clinical testing Reported previously as a maternally inherited variant in a patient with Dravet syndrome; the clinical significance is uncertain (Singh et al., 2009). To our knowledge, this variant has not been previously reported in association with small fiber neuropathy or congenital indifference to pain.; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28488083, 19763161)
Baylor Genetics RCV001332206 SCV001524448 uncertain significance Generalized epilepsy with febrile seizures plus, type 7 2019-07-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000781948 SCV000920392 uncertain significance Seizures 2017-08-25 no assertion criteria provided clinical testing

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