ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)

gnomAD frequency: 0.00003  dbSNP: rs121918807
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000059515 SCV000152595 uncertain significance not provided 2013-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000059515 SCV000242448 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing Published functional studies demonstrate that R1575C may increase channel activity and act as a susceptibility allele (Ohmori et al., 2008); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This substitution is predicted to be within the transmembrane segment S2 of the fourth homologous domain; This variant is associated with the following publications: (PMID: 20675100, 33067208, 22309220, 22050978, 31719132, 18930999, 31875159, 23195492, 18031552, 21868258, 19586930, 27538648, 26311622, 22386634, 18076640, 32613771, 34661330)
Eurofins Ntd Llc (ga) RCV000059515 SCV000855931 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Mendelics RCV000986874 SCV001136022 benign Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000986874 SCV001526544 uncertain significance Severe myoclonic epilepsy in infancy 2018-09-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001513378 SCV001720988 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-27 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059515 SCV000091045 not provided not provided no assertion provided not provided
Channelopathy-Associated Epilepsy Research Center RCV000986874 SCV004809275 not provided Severe myoclonic epilepsy in infancy no assertion provided literature only

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