Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174769 | SCV000226135 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001036255 | SCV001199608 | uncertain significance | Nephronophthisis | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 896 of the INVS protein (p.Val896Ile). This variant is present in population databases (rs114847355, gnomAD 0.1%). This missense change has been observed in individual(s) with nephronophthisis-related ciliopathy (PMID: 31131822, 33323469). ClinVar contains an entry for this variant (Variation ID: 194405). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Gene |
RCV000174769 | SCV002578456 | uncertain significance | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | Identified in the published literature in an individual with stage 3 chronic kidney disease who harbored an additional INVS variant (Tang et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33323469, 34426522, 31131822) |
Fulgent Genetics, |
RCV002478564 | SCV002775155 | uncertain significance | Infantile nephronophthisis | 2022-05-03 | criteria provided, single submitter | clinical testing |