ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2150C>T (p.Thr717Met)

gnomAD frequency: 0.00003  dbSNP: rs141276802
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 RCV000823017 SCV000963855 uncertain significance Dilated cardiomyopathy 1KK 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 717 of the MYPN protein (p.Thr717Met). This variant is present in population databases (rs141276802, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. ClinVar contains an entry for this variant (Variation ID: 664841). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Klaassen Lab, Charite University Medicine Berlin RCV000853120 SCV000995831 uncertain significance Primary dilated cardiomyopathy 2019-07-03 criteria provided, single submitter research
Ambry Genetics RCV002427068 SCV002731230 uncertain significance Cardiovascular phenotype 2024-07-01 criteria provided, single submitter clinical testing The p.T717M variant (also known as c.2150C>T), located in coding exon 10 of the MYPN gene, results from a C to T substitution at nucleotide position 2150. The threonine at codon 717 is replaced by methionine, an amino acid with similar properties. This alteration has been reported in a pediatric primary cardiomyopathy cohort; however, clinical details were limited (Kühnisch J et al. Clin Genet, 2019 12;96:549-559). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.