ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)

dbSNP: rs797045940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194223 SCV000248795 uncertain significance not specified 2015-05-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192960 SCV001361449 likely pathogenic Autosomal dominant epilepsy 2019-07-18 criteria provided, single submitter clinical testing Variant summary: SCN1A c.5336A>G (p.Asn1779Ser) results in a conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence (ACMG PM1, PP2). Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251180 control chromosomes (ACMG PM2). To our knowledge, no published occurrence of c.5336A>G in individuals affected with SCN1A-Related Seizure Disorder and no experimental evidence demonstrating its impact on protein function have been reported. This variant was identified in a patient tested at our laboratory. Subsequent analysis pointed to a "presumed" de-novo etiology following analysis targeted specifically for this variant in both the parents (ACMG PM6). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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