Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520565 | SCV000620682 | likely pathogenic | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | The c.3771delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.3771delT variant causes a frameshift starting with codon Leucine 1258, changes this amino acid to a Serine residue and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Leu1258SerfsX24. However, the variant is not predicted to lead to nonsense-mediated mRNA decay. In summary, this variant is likely pathogenic. |