ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.168G>C (p.Lys56Asn)

gnomAD frequency: 0.00005  dbSNP: rs375964590
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001862464 SCV002231023 uncertain significance Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-09-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 56 of the PARN protein (p.Lys56Asn). This variant is present in population databases (rs375964590, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of pulmonary fibrosis (PMID: 28414520). ClinVar contains an entry for this variant (Variation ID: 834009). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PARN protein function. 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, Fulgent Genetics RCV001862464 SCV005642680 uncertain significance Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-04-22 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001034551 SCV001197916 uncertain significance Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.