Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497410 | SCV000590705 | uncertain significance | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | The c.1097dupT variant in the SLC39A8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1097dupT variant causes a frameshift starting with codon Leucine 366, changes this amino acid to a Phenylalanine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Leu366PhefsX52. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1097dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1097dupT as a variant of uncertain significance. |
Revvity Omics, |
RCV003139700 | SCV003821370 | uncertain significance | SLC39A8-CDG | 2023-07-29 | criteria provided, single submitter | clinical testing |