ClinVar Miner

Submissions for variant NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) (rs121908457)

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Total submissions: 6
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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 2019-02-12 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 55 of the MYOT protein (p.Ser55Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in many individuals and families affected with myofibrillar myopathy, limb-girdle muscular dystrophy and other forms of myotilinopathies (PMID:12428213, 16684602, 9027924, 26342832, 21676617, 25208129, 15111675, 15947064). ClinVar contains an entry for this variant (Variation ID: 5835). Experimental studies have shown that this missense change exhibits slower degradation rates than wild type myotilin, however the significance of this finding is uncertain (PMID: 21361873). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik 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
OMIM RCV000794536 SCV000026373 pathogenic Myofibrillar myopathy 3 2004-04-27 no assertion criteria provided literature only

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