Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175905 | SCV000227478 | uncertain significance | not provided | 2014-12-12 | criteria provided, single submitter | clinical testing | |
Center for Medical Genetics Ghent, |
RCV001260234 | SCV001437202 | likely pathogenic | Brittle cornea syndrome 2 | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000175905 | SCV002146738 | uncertain significance | not provided | 2022-05-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 36 of the PRDM5 protein (p.Gly36Arg). This variant is present in population databases (rs374583073, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of PRDM5-related conditions (PMID: 33739556). ClinVar contains an entry for this variant (Variation ID: 195343). 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: "Probably 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. |
Genome Diagnostics Laboratory, |
RCV002277367 | SCV002566043 | uncertain significance | Ehlers-Danlos syndrome | 2020-12-10 | criteria provided, single submitter | clinical testing |