Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001233865 | SCV001406479 | uncertain significance | Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2023-06-04 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs772109946, gnomAD 0.006%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PARN protein function. ClinVar contains an entry for this variant (Variation ID: 960353). This variant has not been reported in the literature in individuals affected with PARN-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 364 of the PARN protein (p.Glu364Lys). |
| Ambry Genetics | RCV003166437 | SCV003879557 | uncertain significance | Inborn genetic diseases | 2023-03-14 | criteria provided, single submitter | clinical testing | The c.1090G>A (p.E364K) alteration is located in exon 17 (coding exon 17) of the PARN gene. This alteration results from a G to A substitution at nucleotide position 1090, causing the glutamic acid (E) at amino acid position 364 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |