ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.99+1G>A

dbSNP: rs281865166
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376338 SCV001573452 likely pathogenic Retinitis pigmentosa 14 2021-04-08 criteria provided, single submitter research The TULP1 c.99+1G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Invitae RCV000086081 SCV003439409 pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 99675). This variant is also known as IVS2+1G>A. Disruption of this splice site has been observed in individuals with TULP1-related conditions (PMID: 9462750, 15024725). This variant is present in population databases (rs281865166, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 2 of the TULP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821).
OMIM RCV001376338 SCV000027986 pathogenic Retinitis pigmentosa 14 2004-04-01 no assertion criteria provided literature only
OMIM RCV001255922 SCV000044477 pathogenic Leber congenital amaurosis 15 2004-04-01 no assertion criteria provided literature only
Retina International RCV000086081 SCV000118225 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001255922 SCV001432530 pathogenic Leber congenital amaurosis 15 no assertion criteria provided research

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