Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000049759 | SCV002776075 | likely pathogenic | Lysinuric protein intolerance | 2021-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000049759 | SCV003442781 | pathogenic | Lysinuric protein intolerance | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe335Leufs*15) in the SLC7A7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC7A7 are known to be pathogenic (PMID: 10631139, 17764084). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with lysinuric protein intolerance (PMID: 10080182, 12402335). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1291delCTTT. ClinVar contains an entry for this variant (Variation ID: 56346). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000049759 | SCV004202543 | pathogenic | Lysinuric protein intolerance | 2023-03-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000049759 | SCV000026771 | pathogenic | Lysinuric protein intolerance | 2008-01-01 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049759 | SCV000082166 | probable-pathogenic | Lysinuric protein intolerance | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |