Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000275274 | SCV000460123 | uncertain significance | Hypophosphatemic Rickets, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000330273 | SCV000460124 | uncertain significance | Arterial calcification, generalized, of infancy, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001046162 | SCV001210052 | uncertain significance | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ENPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 355327). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the ENPP1 gene. It does not directly change the encoded amino acid sequence of the ENPP1 protein. |