ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs)

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Total submissions: 1
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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.

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