ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)

gnomAD frequency: 0.00001  dbSNP: rs121909509
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003517129 SCV004292168 uncertain significance Lethal multiple pterygium syndrome 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 79 of the CHRND protein (p.Ile79Lys). This variant is present in population databases (rs121909509, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of autosomal recessive CHRND-related conditions (PMID: 18398509, 29399782). This variant is also known as I58K. ClinVar contains an entry for this variant (Variation ID: 18365). 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 CHRND protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects CHRND function (PMID: 18398509). 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.
OMIM RCV000020033 SCV000040331 pathogenic Congenital myasthenic syndrome 3B 2008-05-01 no assertion criteria provided literature only

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.