ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)

dbSNP: rs1581736099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003558630 SCV004293297 pathogenic not provided 2023-05-12 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with TULP1-related conditions (PMID: 24474277, 31456290). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 812438). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp450*) in the TULP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821).
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003239 SCV001161318 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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