ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)

gnomAD frequency: 0.00001  dbSNP: rs758194318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623121 SCV000742523 uncertain significance Inborn genetic diseases 2017-05-09 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001855311 SCV001368397 uncertain significance Myofibrillar myopathy 3 2020-02-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Invitae RCV001855311 SCV002296112 uncertain significance Myofibrillar myopathy 3 2021-12-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 521779). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs758194318, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 333 of the MYOT protein (p.Thr333Ile).
Mayo Clinic Laboratories, Mayo Clinic RCV003480719 SCV004227126 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001855311 SCV004236766 uncertain significance Myofibrillar myopathy 3 2023-04-19 criteria provided, single submitter clinical testing

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