Total submissions: 2
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, |
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 |