ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1901+1G>T

gnomAD frequency: 0.00003  dbSNP: rs375910993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208661 SCV001380064 likely pathogenic Saldino-Mainzer syndrome 2023-08-17 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 939285). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant is present in population databases (rs375910993, gnomAD 0.004%). This sequence change affects a donor splice site in intron 16 of the IFT140 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 IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056).
Fulgent Genetics, Fulgent Genetics RCV002480683 SCV002788395 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-05 criteria provided, single submitter clinical testing

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