ClinVar Miner

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

dbSNP: rs121908457
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Total submissions: 7
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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
Invitae RCV000794536 SCV000933950 pathogenic Myofibrillar myopathy 3 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on MYOT function (PMID: 21361873). 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 MYOT protein function. ClinVar contains an entry for this variant (Variation ID: 5835). 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. This variant is not present in population databases (gnomAD no frequency). 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).
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

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