ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)

dbSNP: rs121908457
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414759 SCV000493044 likely pathogenic Progressive distal muscle weakness; Progressive proximal muscle weakness 2014-03-19 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626902 SCV000747605 pathogenic Urinary bladder sphincter dysfunction; EMG: myopathic abnormalities; Distal amyotrophy; Foot dorsiflexor weakness; Distal lower limb muscle weakness; Lower limb pain; Fatty replacement of skeletal muscle; Muscle fiber inclusion bodies 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794536 SCV000933950 pathogenic Myofibrillar myopathy 3 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 55 of the MYOT protein (p.Ser55Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with myofibrillar myopathy, limb-girdle muscular dystrophy, and other forms of myotilinopathies (PMID: 9027924, 12428213, 15111675, 15947064, 16684602, 21676617, 25208129, 26342832). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5835). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MYOT protein function with a positive predictive value of 95%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on MYOT function (PMID: 21361873). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091589 SCV001247721 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091589 SCV001447480 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000794536 SCV002580234 likely pathogenic Myofibrillar myopathy 3 2021-09-02 criteria provided, single submitter clinical testing
OMIM RCV000794536 SCV000026373 pathogenic Myofibrillar myopathy 3 2004-04-27 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.