Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178007 | SCV000229976 | uncertain significance | not provided | 2015-01-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000178007 | SCV002257649 | uncertain significance | not provided | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2983 of the PCNT protein (p.Leu2983Phe). This variant is present in population databases (rs372356069, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 197082). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252022 | SCV002523685 | likely benign | See cases | 2020-04-24 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BP1, BP4 |