ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) (rs62070884)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000078657 SCV000574523 benign not specified 2016-11-20 criteria provided, single submitter reference population ACMG Criteria: BS1, BS2, ?BS3. Single case reported in literature (PMID: 7695243) in gene associated with autosomal dominant moderate/mild pediatric disease (hyperkalemic periodic paralysis). There is also negative functional data in a cell line (not necessarily a well established assay): "no alteration of channel activation, or any defect in either fast or slow inactivation" (PMID: 9266738). In ExAC, allele frequency is 2.9% in South Asians, and there are 9 homozygotes.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514862 SCV000610280 likely benign not provided 2017-07-05 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000078657 SCV000257669 benign not specified 2015-06-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078657 SCV000110513 benign not specified 2013-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000078657 SCV000520903 benign not specified 2016-02-18 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.
GeneReviews RCV000020268 SCV000040622 benign Hyperkalemic Periodic Paralysis Type 1 2016-01-28 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000078657 SCV000152633 benign not specified 2016-05-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392057 SCV000405221 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309597 SCV000405222 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368999 SCV000405223 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273976 SCV000405224 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315013 SCV000405225 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000020268 SCV000658532 benign Hyperkalemic Periodic Paralysis Type 1 2017-12-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078657 SCV000303637 likely benign not specified criteria provided, single submitter clinical testing

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