Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003555926 | SCV004292762 | pathogenic | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 5335). This variant is also known as c.396delAA. This premature translational stop signal has been observed in individual(s) with LRAT-related conditions (PMID: 11381255). This variant is present in population databases (rs761717462, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys134Glyfs*12) in the LRAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRAT are known to be pathogenic (PMID: 22559933, 24265693). |
OMIM | RCV000005662 | SCV000025844 | pathogenic | RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | 2001-06-01 | no assertion criteria provided | literature only |