ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.400_401del (p.Lys134fs)

dbSNP: rs761717462
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Total submissions: 2
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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

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