Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breda Genetics srl | RCV001250669 | SCV001370787 | likely pathogenic | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2020-03-03 | criteria provided, single submitter | clinical testing | We have detected a heterozygous variant in exon 9 of the SMC1A gene, c.1342_1348del (p.Ser448Lysfs*6), reference transcript NM_006306.3. The variant creates a shift in the reading frame which is predicted to result in a premature stop codon 6 amino acids downstream, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. |