ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)

gnomAD frequency: 0.00002  dbSNP: rs764439615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732547 SCV000860515 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001373347 SCV001570057 uncertain significance Myofibrillar myopathy 3 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 261 of the MYOT protein (p.Ile261Thr). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 596642). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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