ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)

gnomAD frequency: 0.00015  dbSNP: rs146426896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725246 SCV000335255 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000725246 SCV000491703 uncertain significance not provided 2020-09-03 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623)
Labcorp Genetics (formerly Invitae), Labcorp RCV000812032 SCV000952330 uncertain significance Myofibrillar myopathy 3 2024-08-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 471 of the MYOT protein (p.Leu471Phe). This variant is present in population databases (rs146426896, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. ClinVar contains an entry for this variant (Variation ID: 283264). 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 disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000812032 SCV003810957 uncertain significance Myofibrillar myopathy 3 2020-03-15 criteria provided, single submitter clinical testing

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