Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002517366 | SCV003443436 | uncertain significance | Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2022-05-21 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change affects PARN function (PMID: 26342108). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 219120). This missense change has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 26342108). This variant is present in population databases (rs754368658, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 349 of the PARN protein (p.Arg349Trp). |
OMIM | RCV000203540 | SCV000258603 | pathogenic | Dyskeratosis congenita, autosomal recessive 6 | 2015-11-01 | no assertion criteria provided | literature only | |
The Telomere Center at Johns Hopkins, |
RCV003325405 | SCV003840215 | pathogenic | Telomere syndrome | 2022-08-01 | no assertion criteria provided | clinical testing |