Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522147 | SCV000621502 | uncertain significance | not provided | 2017-10-12 | criteria provided, single submitter | clinical testing | The c.1551+5 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.1551+5 G>A destroys or damages the natural splice donor site in intron 12, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual isunknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Ambry Genetics | RCV002404352 | SCV002704853 | uncertain significance | Inborn genetic diseases | 2018-11-16 | criteria provided, single submitter | clinical testing | The c.1551+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 12 in the TPP1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001829527 | SCV002094794 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2021-03-12 | no assertion criteria provided | clinical testing |