Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730695 | SCV000858453 | likely pathogenic | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000730695 | SCV002968836 | pathogenic | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met432Ilefs*84) in the SLC6A19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC6A19 are known to be pathogenic (PMID: 15286787, 15286788). This variant is present in population databases (rs762942358, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. ClinVar contains an entry for this variant (Variation ID: 595203). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000730695 | SCV003926386 | uncertain significance | not provided | 2022-11-19 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |