Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498991 | SCV000589983 | likely pathogenic | not provided | 2017-05-23 | criteria provided, single submitter | clinical testing | The c.573_580del8insTTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.573_580del8insTTT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.573_580del8insTTT variant causes a frameshift starting with codon Glycine 193, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Gly193LysfsX58. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as likely pathogenic. |