ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) (rs121918807)

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Total submissions: 7
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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 2018-03-05 criteria provided, single submitter clinical testing The R1575C variant has been reported previously in association with epilepsy; however, multiple individuals had a different etiology for the phenotype and/or the variant was inherited from an unaffected parent (SCN1A Variant Database; Ohmori et al., 2008; Depienne et al., 2009; Wang et al., 2012). Functional studies of R1575C suggest it may increase channel activity and act as a susceptbility allele (Ohmori et al., 2008). The R1575C variant is observed in 12/17214 (0.07%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). The R1575C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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].
Invitae RCV001513378 SCV001720988 benign Early infantile epileptic encephalopathy with suppression bursts 2020-03-23 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059515 SCV000091045 not provided not provided no assertion provided not provided

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