Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000174770 | SCV000226136 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001036256 | SCV001199609 | uncertain significance | Nephronophthisis | 2024-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 929 of the INVS protein (p.Ser929Gly). This variant is present in population databases (rs116188920, gnomAD 0.1%). This missense change has been observed in individual(s) with focal segmental glomerulosclerosis (PMID: 31308072). ClinVar contains an entry for this variant (Variation ID: 194406). 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 disruptive. 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 |
RCV000174770 | SCV002578472 | uncertain significance | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
| Fulgent Genetics, |
RCV002505249 | SCV002815898 | uncertain significance | Infantile nephronophthisis | 2022-05-06 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004752772 | SCV005344696 | uncertain significance | INVS-related disorder | 2024-03-19 | no assertion criteria provided | clinical testing | The INVS c.2785A>G variant is predicted to result in the amino acid substitution p.Ser929Gly. This variant was reported along with additional INVS variants in an individual with focal and segmental glomerulosclerosis (Table S4, Wang et al. 2019. PubMed ID: 31308072). This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |