Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001063585 | SCV001228439 | likely pathogenic | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with clinical features of FLVCR1-related conditions (PMID: 24628582). It has also been observed to segregate with disease in related individuals. 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. 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: 857832). This variant is present in population databases (rs771159212, gnomAD 0.01%). This sequence change falls in intron 9 of the FLVCR1 gene. It does not directly change the encoded amino acid sequence of the FLVCR1 protein. It affects a nucleotide within the consensus splice site. |
| Gene |
RCV001063585 | SCV004169291 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; This variant is associated with the following publications: (PMID: 24628582) |