Total submissions: 4
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, |
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 |