ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.634+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1323647622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073818 SCV001239382 uncertain significance Retinal dystrophy 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV001237370 SCV001410127 pathogenic Saldino-Mainzer syndrome 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 866080). This variant has been observed in individual(s) with clinical features of inherited retinal degeneration and/or clinical features of retinitis pigmentosa (PMID: 32037395; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 6 of the IFT140 gene. It does not directly change the encoded amino acid sequence of the IFT140 protein. It affects a nucleotide within the consensus splice site.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376446 SCV001573587 uncertain significance Retinitis pigmentosa 80 2021-04-08 criteria provided, single submitter research The IFT140 c.634+5G>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: PM2, PP3, PM3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
DBGen Ocular Genomics RCV001376446 SCV001815887 uncertain significance Retinitis pigmentosa 80 2021-06-16 criteria provided, single submitter clinical testing

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