Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000002950 | SCV000594886 | pathogenic | Fraser syndrome 1 | 2016-07-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000002950 | SCV002810463 | pathogenic | Fraser syndrome 1 | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003555904 | SCV004293189 | likely pathogenic | not provided | 2023-04-26 | 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. Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (PMID: 17163535). ClinVar contains an entry for this variant (Variation ID: 2816). Disruption of this splice site has been observed in individual(s) with Fraser syndrome (PMID: 17163535). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects a donor splice site in intron 52 of the FRAS1 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 FRAS1 are known to be pathogenic (PMID: 12766769, 18671281). |
OMIM | RCV000002950 | SCV000023108 | pathogenic | Fraser syndrome 1 | 2007-02-01 | no assertion criteria provided | literature only |