ClinVar Miner

Submissions for variant NM_001135940.2(MYOT):c.-197+305C>T (rs121908458)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725464 SCV000337124 pathogenic not provided 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV000006194 SCV000638813 pathogenic Myofibrillar myopathy 3 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 60 of the MYOT protein (p.Ser60Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs121908458, ExAC 0.007%). This variant has been reported in the heterozygous state in many individuals affected with myofibrillar myopathy (PMID: 15111675, 15947064, 19225410, 19590214, 21676617, 25208129, 26842778). It has also been reported to segregate with myopathy in an affected family (PMID: 16793270). In one family affected with myofibrillar myopathy the variant was observed in the homozygous state (PMID: 27854214). ClinVar contains an entry for this variant (Variation ID: 5837). Experimental studies have shown that this missense change alters the degradation of the MYOT protein, which may lead to MYOT protein aggregates (PMID: 21361873). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725464 SCV001248346 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
OMIM RCV000006194 SCV000026376 pathogenic Myofibrillar myopathy 3 2004-04-27 no assertion criteria provided literature only
Institute of Human Genetics, Klinikum rechts der Isar RCV000006194 SCV001150179 pathogenic Myofibrillar myopathy 3 2019-06-07 no assertion criteria provided clinical testing

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