Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729584 | SCV000857257 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868943 | SCV002124131 | uncertain significance | Nephronophthisis | 2021-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 53 of the NPHP3 protein (p.Ala53Gly). This variant is present in population databases (rs538317431, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 594322). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002477696 | SCV002792801 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2021-07-11 | criteria provided, single submitter | clinical testing |