ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.718+2T>C

dbSNP: rs1581742970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003555962 SCV004293303 pathogenic not provided 2023-09-09 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: 7365). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 18055821). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 7 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 RCV000007790 SCV000027991 pathogenic Retinitis pigmentosa 14 2007-12-01 no assertion criteria provided literature only

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