ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)

gnomAD frequency: 0.00003  dbSNP: rs1163332539
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
Invitae RCV001364854 SCV001561041 uncertain significance Myofibrillar myopathy 3 2023-06-13 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1056080). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 150 of the MYOT protein (p.Ile150Thr).
GeneDx RCV003227966 SCV003924838 uncertain significance not provided 2022-11-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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
Ambry Genetics RCV003346520 SCV004057775 uncertain significance Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.449T>C (p.I150T) alteration is located in exon 3 (coding exon 2) of the MYOT gene. This alteration results from a T to C substitution at nucleotide position 449, causing the isoleucine (I) at amino acid position 150 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003227966 SCV004227125 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing

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.