ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly)

dbSNP: rs1697272149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266459 SCV001444634 likely pathogenic Inborn genetic diseases 2018-04-17 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001823190 SCV002073223 uncertain significance Developmental and epileptic encephalopathy, 11 criteria provided, single submitter clinical testing The missense variant p.D195G in SCN2A (NM_021007.3) is submitted to ClinVar as Likely Pathogenic but no details are available for independent assessment. It has not been reported in affected individuals in literature.The p.D195G variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.D195G missense variant is predicted to be damaging by both SIFT and PolyPhen2. The aspartic acid residue at codon 195 of SCN2A is conserved in all mammalian species. The nucleotide c.584 in SCN2A is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Unceratin Significance

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