ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.477G>A (p.Met159Ile)

dbSNP: rs730880706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158465 SCV000208400 uncertain significance not provided 2012-03-13 criteria provided, single submitter clinical testing This variant is denoted p.Met159Ile (M159I) at the protein level and c.477 G>A at the cDNA level. The Met159Ile variant in the MYBPC3 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Met159Ile results in a conservative amino acid substitution of a non-polar Methionine with a non-polar Isoleucine at a position that is conserved across mammalian species. In silico analysis predicts Met159Ile probably has a benign effect on the protein structure or function. However, mutations at nearby codons (Ile154Thr, Leu156Pro, Arg160Trp, Pro161Ser) have been reported in association with HCM, supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Met159Ile was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, with the clinical and molecular information available at this time, we cannot determine whether Met159Ile in the MYBPC3 gene is a disease-causing mutation or a benign variant.The variant is found in HCM panel(s).

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.