ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)

dbSNP: rs28937597
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000424803 SCV000331973 pathogenic not provided 2016-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000424803 SCV000515894 pathogenic not provided 2023-01-23 criteria provided, single submitter clinical testing Reported in a family with MYOT-related myopathy in published literature (Hauser et al., 2000); A mouse model carrying the equivalent variant in murine MYOT had progressive myofibrillar pathology including Z-disc streaming, excess myofibrillar vacuolization, and plaque-like myofibrillar aggregation (Garvey et al., 2006); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 21361873, 3275904, 30907627, 32721234, 10958653, 16801328)
Invitae RCV000639976 SCV000761562 pathogenic Myofibrillar myopathy 3 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 57 of the MYOT protein (p.Thr57Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with limb-girdle muscular dystrophy 1A in a large kindred (PMID: 3275904, 10958653). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5834). 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 tolerated. Experimental studies have shown that this missense change affects MYOT function (PMID: 16801328). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV000424803 SCV000842842 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000639976 SCV002017710 pathogenic Myofibrillar myopathy 3 2023-03-06 criteria provided, single submitter clinical testing
OMIM RCV000639976 SCV000026372 pathogenic Myofibrillar myopathy 3 2000-09-01 no assertion criteria provided literature only
GeneReviews RCV000639976 SCV000055883 not provided Myofibrillar myopathy 3 no assertion provided literature only

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