ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys)

gnomAD frequency: 0.00001  dbSNP: rs770539885
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937088 SCV002219665 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing 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 expected to disrupt PYCR1 protein function. ClinVar contains an entry for this variant (Variation ID: 1441203). This variant has not been reported in the literature in individuals affected with PYCR1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 264 of the PYCR1 protein (p.Arg264Cys). 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.
GeneDx RCV001937088 SCV002765527 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002484714 SCV002799607 uncertain significance Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 2022-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170057 SCV003877306 uncertain significance Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing The c.790C>T (p.R264C) alteration is located in exon 6 (coding exon 6) of the PYCR1 gene. This alteration results from a C to T substitution at nucleotide position 790, causing the arginine (R) at amino acid position 264 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.